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Death Statistics for Types of Musculoskeletal conditions

Deaths and Musculoskeletal conditions:

This section presents information about the death rate statistics for the various types of Musculoskeletal conditions.

Death Statistics for Types of Musculoskeletal conditions

Disease

Death Rate Estimate

US deaths estimate

Statistic Used for Calculation

Hip cancer N/A N/A No information
Rib Tumor N/A N/A No information
Synovial cancer N/A N/A No information
Broken finger N/A N/A No information
Broken foot N/A N/A No information
Foot fracture N/A N/A No information
Broken hand N/A N/A No information
Hand fracture N/A N/A No information
Broken jaw N/A N/A No information
Broken leg N/A N/A No information
Fractured femur N/A N/A No information
Broken nose N/A N/A No information
Broken shoulder blade N/A N/A No information
Broken toe N/A N/A No information
Shoulder dislocation N/A N/A No information
Shoulder separation N/A N/A No information
Torn Rotator Cuff N/A N/A No information
Frozen Shoulder N/A N/A No information
Shoulder Fracture N/A N/A No information
Shoulder injury N/A N/A No information
Dislocation N/A N/A No information
Broken Collarbone N/A N/A No information
Vertebral fracture N/A N/A No information
Spinal curvature N/A N/A No information
Adolescent idiopathic scoliosis N/A N/A No information
Whiplash N/A N/A No information
Broken neck N/A N/A No information
Rib fracture N/A N/A No information
Spinal stenosis N/A N/A No information
Scoliosis N/A N/A 3-per-1,000 to 5-per-1000 children (NIAMS)
Kyphosis N/A N/A No information
Hip dislocation N/A N/A No information
Dislocated elbow N/A N/A No information
Dislocated jaw N/A N/A No information
Idiopathic adolescent scoliosis N/A N/A No information
Cardiomyopathy -- hypotonia -- lactic acidosis N/A N/A No information
Familial Febrile Convulsions, 2 N/A N/A No information
Spastic Paraplegia 42, Autosomal Dominant N/A N/A No information
Spinocerebellar ataxia, autosomal recessive 6 N/A N/A No information
Spinocerebellar ataxia 18 N/A N/A No information
Spinocerebellar ataxia 27 N/A N/A No information
Spinocerebellar ataxia 19 N/A N/A No information
Spinocerebellar ataxia 28 N/A N/A No information
Spinocerebellar ataxia 29 N/A N/A No information
Spinocerebellar ataxia, autosomal dominant N/A N/A No information
Familial Febrile Convulsions, 3 N/A N/A No information
Familial Febrile Convulsions, 3A N/A N/A No information
Familial Febrile Convulsions, 3B N/A N/A No information
Familial Febrile Convulsions, 4 N/A N/A No information
Familial Febrile Convulsions, 5 N/A N/A No information
Familial Febrile Convulsions, 6 N/A N/A No information
Familial Febrile Convulsions, 7 N/A N/A No information
Familial Febrile Convulsions, 8 N/A N/A No information
Familial Febrile Convulsions, 9 N/A N/A No information
Familial Febrile Convulsions, 10 N/A N/A No information
Familial Febrile Convulsions, 1 N/A N/A No information
Familial Febrile Convulsions N/A N/A No information
Deafness -- cataracts -- skeletal anomalies N/A N/A No information
Spinocerebellar ataxia, autosomal recessive 4 N/A N/A No information
Spinocerebellar ataxia 16 N/A N/A No information
Spinocerebellar ataxia 25 N/A N/A No information
Grand mal epilepsy N/A N/A No information
Spastic paraplegia 30, autosomal recessive N/A N/A No information
Spastic paraplegia 32, autosomal recessive N/A N/A No information
Spastic paraplegia 33, autosomal dominant N/A N/A No information
Neuropathy sensory spastic paraplegia N/A N/A No information
Spastic paraplegia 3, autosomal dominant N/A N/A No information
Charcot-Marie-Tooth disease, X-linked recessive, 2 N/A N/A No information
Spastic paraplegia 4, autosomal dominant N/A N/A No information
Charcot-Marie-Tooth disease, X-linked recessive, 3 N/A N/A No information
Spastic paraplegia 8, autosomal dominant N/A N/A No information
Spastic paraplegia 9, autosomal dominant N/A N/A No information
Charcot-Marie-Tooth disease, Type 2AII N/A N/A No information
Charcot-Marie-Tooth disease, Type 1A N/A N/A No information
Charcot-Marie-Tooth disease, Type 1B N/A N/A No information
Charcot-Marie-Tooth disease, Type 2B N/A N/A No information
Charcot-Marie-Tooth disease, Type 1C N/A N/A No information
Charcot-Marie-Tooth disease, Type 4A N/A N/A No information
Charcot-Marie-Tooth disease, Type 2C N/A N/A No information
Charcot-Marie-Tooth disease, Type 1D N/A N/A No information
Charcot-Marie-Tooth disease, Type 2D N/A N/A No information
Charcot-Marie-Tooth disease, Type 1E N/A N/A No information
Charcot-Marie-Tooth disease, Type 4C N/A N/A No information
Charcot-Marie-Tooth disease, Type 2E N/A N/A No information
Charcot-Marie-Tooth disease, Type 1F N/A N/A No information
Charcot-Marie-Tooth disease, Type 2G N/A N/A No information
Charcot-Marie-Tooth disease, Type 4E N/A N/A No information
Charcot-Marie-Tooth disease, Type 4F N/A N/A No information
Charcot-Marie-Tooth disease, Type 2H N/A N/A No information
Charcot-Marie-Tooth disease, Type 4G N/A N/A No information
Spastic paraplegia type 5A, recessive N/A N/A No information
Charcot-Marie-Tooth disease, Type 2I N/A N/A No information
Charcot-Marie-Tooth disease, Type 4H N/A N/A No information
Spastic paraplegia type 5B, recessive N/A N/A No information
Charcot-Marie-Tooth disease, Type 2J N/A N/A No information
Charcot-Marie-Tooth disease, type 2 N/A N/A No information
Charcot-Marie-Tooth disease, Type 2A N/A N/A No information
Charcot-Marie-Tooth disease, type 4 N/A N/A No information
Charcot-Marie-Tooth disease, demyelinating, autosomal dominant N/A N/A No information
Charcot-Marie-Tooth, demyelinating, autosomal recessive N/A N/A No information
Charcot-Marie-Tooth disease, X-linked N/A N/A No information
Charcot-Marie-Tooth disease, type 1 N/A N/A No information
Charcot-Marie-Tooth disease, Type 2L N/A N/A No information
Spinocerebellar ataxia 11 N/A N/A No information
Spinocerebellar ataxia 20 N/A N/A No information
Spinocerebellar ataxia 12 N/A N/A No information
Spinocerebellar ataxia 21 N/A N/A No information
Spinocerebellar ataxia, autosomal recessive 1 N/A N/A No information
Spinocerebellar ataxia 13 N/A N/A No information
Spinocerebellar ataxia 22 N/A N/A No information
Spinocerebellar ataxia 14 N/A N/A No information
Spinocerebellar ataxia 23 N/A N/A No information
Spinocerebellar ataxia, autosomal recessive 3 N/A N/A No information
Spinocerebellar ataxia 15 N/A N/A No information
Spastic paraplegia 24 N/A N/A No information
Spinocerebellar ataxia, autosomal recessive 5 N/A N/A No information
Spinocerebellar ataxia 17 N/A N/A No information
Spinocerebellar ataxia 26 N/A N/A No information
Epilepsy, Juvenile Myoclonic, Susceptibility to, 1 N/A N/A No information
Epilepsy, Juvenile Myoclonic, Susceptibility to, 2 N/A N/A No information
Epilepsy, Juvenile Myoclonic, Susceptibility to, 3 N/A N/A No information
Epilepsy, Juvenile Myoclonic, Susceptibility to, 4 N/A N/A No information
Epilepsy, Juvenile Myoclonic, Susceptibility to, 5 N/A N/A No information
Epilepsy, Juvenile Myoclonic, Susceptibility to, 6 N/A N/A No information
Epilepsy, Juvenile Myoclonic, Susceptibility to, 7 N/A N/A No information
Epilepsy, Juvenile Myoclonic, Susceptibility to, 8 N/A N/A No information
Hip injury N/A N/A No information
Progressive Spinobulbar muscular atrophy N/A N/A No information
Kennedy Syndrome N/A N/A No information
Spinal Muscular Atrophy N/A N/A 1 per 6,000 - 10,000 people suffer from spinal muscular atrophy, Genetics Home Reference website
Spinal Muscular Atrophy type I N/A N/A No information
Spinal Muscular Atrophy type II N/A N/A No information
Spinal Muscular Atrophy type III N/A N/A No information
Adult SMA N/A N/A No information
Muscular Dystrophy N/A N/A No information
Duchenne Muscular Dystrophy N/A N/A No information
Becker Muscular Dystrophy N/A N/A No information
Limb-girdle Muscular Dystrophy N/A N/A No information
Muscular dystrophy, Duchenne and Becker type N/A N/A 1 per 3,500 - 5,000 male newborns suffer from muscular dystrophy, Duchenne and Becker types, Genetics Home Reference website
Adult progressive spinal muscular atrophy, Aran Duchenne type N/A N/A No information
Becker's muscular dystrophy (BMD) N/A N/A No information
Muscular dystrophy, limb-girdle, autosomal recessive, type 2K N/A N/A No information
Muscular dystrophy, limb-girdle, autosomal dominant, type 1F N/A N/A No information
Muscular dystrophy, limb-girdle, autosomal dominant, type 1G N/A N/A No information
Muscular dystrophy, limb-girdle -- mental retardation N/A N/A No information
Limb-girdle muscular dystrophy type 1B N/A N/A No information
Limb-Girdle muscular dystrophy type 2A N/A N/A No information
Limb-girdle muscular dystrophy type 1A N/A N/A No information
Limb-girdle muscular dystrophy type 2B N/A N/A No information
Limb-girdle muscular dystrophy type 1C N/A N/A No information
Limb-girdle muscular dystrophy type 2C N/A N/A No information
Limb-girdle muscular dystrophy type 1D N/A N/A No information
Limb-girdle muscular dystrophy type 2D N/A N/A No information
Limb-girdle muscular dystrophy type 1E N/A N/A No information
Spinocerebellar ataxia 2 N/A N/A No information
Limb-girdle muscular dystrophy type 2E N/A N/A No information
Limb-girdle muscular dystrophy type 2F N/A N/A No information
Spinocerebellar ataxia 4 N/A N/A No information
Limb-girdle muscular dystrophy type 2G N/A N/A No information
Spinocerebellar ataxia 5 N/A N/A No information
Limb-girdle muscular dystrophy type 2H N/A N/A No information
Limb-girdle muscular dystrophy type 2I N/A N/A No information
Muscular dystrophy, limb girdle N/A N/A No information
Myasthenia, familial limb-girdle N/A N/A No information
Muscular dystrophy, limb-girdle, autosomal dominant N/A N/A No information
Spinocerebellar ataxia, Machado-Joseph type I N/A N/A No information
Myopathy, limb-girdle, with bone fragility N/A N/A No information
Muscular dystrophy, limb-girdle type 2M N/A N/A No information
Muscular dystrophy limb girdle type 2A, Erb type N/A N/A No information
Muscular dystrophy, limb-girdle, autosomal recessive, type 2H N/A N/A No information
Muscular dystrophy, limb-girdle, autosomal recessive, type 2B N/A N/A No information
Muscular dystrophy, limb girdle, autosomal recessive, type 2A N/A N/A No information
Muscular dystrophy, limb-girdle, autosomal recessive, type 2E N/A N/A No information
Myasthenia, Limb-Girdle, with Tubular Aggregates N/A N/A No information
Muscular Dystrophy, Limb-Girdle, Type 3 N/A N/A No information
Limb-girdle Muscular Dystropy type 1B N/A N/A No information
Parkinson's disease dementia, familial N/A N/A No information
Autosomal recessive limb-girdle muscular dystrophy, type 2G N/A N/A No information
Muscular dystrophy limb-girdle (generic term) N/A N/A No information
Primary Parkinsonism N/A N/A No information
Genetic Parkinson disease N/A N/A No information
Parkinson disease, genetic types N/A N/A No information
Parkinson disease 4, autosomal dominant, Lewy body N/A N/A No information
Parkinson disease 7, autosomal recessive, early-onset N/A N/A No information
Dystonia musculorum deformans type 1 N/A N/A No information
Spinocerebellar ataxia, X-linked, 2 N/A N/A No information
Spastic paraplegia 2, X-linked N/A N/A No information
Dystonia musculorum deformans type 2 N/A N/A No information
Spinocerebellar ataxia, X-linked, 3 N/A N/A No information
Restless Legs Syndrome, Susceptibility To, 7 N/A N/A No information
Restless Legs Syndrome, Susceptibility To, 6 N/A N/A No information
Restless Legs Syndrome, Susceptibility To, 5 N/A N/A No information
Restless Legs Syndrome, Susceptibility To, 4 N/A N/A No information
Restless Legs Syndrome, Susceptibility To, 3 N/A N/A No information
Restless Legs Syndrome, Susceptibility To, 2 N/A N/A No information
Restless Legs Syndrome, Susceptibility To, 1 N/A N/A No information
Arthritis N/A N/A 37 million Americans (NIAMS)
Osteoporosis N/A N/A 28 million Americans (10 million with osteoporosis; 18 million with low bone mass); eight million American women and 2 million men (NWHIC)
Lymphedema, microcephaly and chorioretinopathy syndrome N/A N/A No information
Mental retardation -- short stature -- heart and skeletal anomalies N/A N/A No information
Cleft palate -- short stature -- vertebral anomalies N/A N/A No information
Osteopetrosis autosomal dominant type 1 N/A N/A No information
Opthalmoplegia progressive external scoliosis N/A N/A No information
Proximal spinal muscular atrophy, type IV N/A N/A No information
Spinal muscular atrophy, Adult form N/A N/A No information
Transient osteoporosis of the hip N/A N/A No information
Postmenopausal osteoporosis N/A N/A No information
Type I spinal osteoporosis N/A N/A No information
Senile osteoporosis N/A N/A No information
Idiopathic osteoporosis N/A N/A No information
Regional migratory osteoporosis N/A N/A No information
Hyperthyroid osteoporosis N/A N/A No information
Localized osteoporosis N/A N/A No information
Disuse osteoporosis N/A N/A No information
Drug-induced osteoporosis N/A N/A No information
Inflammatory pelvic pain N/A N/A No information
Non-inflammatory pelvic pain N/A N/A No information
Parkinson disease 7, autosomal recessive early-onset (PARK7) N/A N/A No information
Parkinson disease 4, autosomal dominant Lewy body (PARK4) N/A N/A No information
Parkinson disease 11 (PARK11) N/A N/A No information
Parkinson disease 13 (PARK13) N/A N/A No information
Parkinson disease 5 (PARK5) N/A N/A No information
Parkinson disease 9 (PARK9) N/A N/A No information
Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques N/A N/A No information
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia N/A N/A No information
Idiopathic Parkinson's disease N/A N/A No information
Parkinson disease, familial, type 1 (PARK1) N/A N/A No information
Parkinson disease 6, autosomal recessive early-onset (PARK6) N/A N/A No information
Parkinson disease 2, autosomal recessive juvenile (PARK2) N/A N/A No information
Parkinson disease 10 (PARK10) N/A N/A No information
Parkinson disease 12 (PARK12) N/A N/A No information
Parkinson disease 8 (PARK8) N/A N/A No information
Parkinson disease 3, autosomal dominant Lewy body (PARK3) N/A N/A No information
Mitochondrial Parkinson's disease N/A N/A No information
Muscle pain N/A N/A No information
Parkinson's Disease approx 1 in 272 or 0.37% or 1 million people in USA 1 million people (unreliable estimate) 1 million people (unreliable estimate)
Pseudogout N/A N/A No information
Shoulder tendinitis N/A N/A No information
Achilles tendinitis N/A N/A No information
Knee tendinitis N/A N/A No information
Shoulder impingement syndrome N/A N/A No information
Shoulder bursitis N/A N/A No information
Shoulder arthritis N/A N/A No information
Impingement syndrome N/A N/A No information
Seronegative spondyloarthropathy N/A N/A No information
Knee osteoarthritis N/A N/A No information
Finger osteoarthritis N/A N/A No information
Wrist osteoarthritis N/A N/A No information
Hip osteoarthritis N/A N/A No information
Spine osteoarthritis N/A N/A No information
Back pain N/A N/A 6 million cases annually (unreliable estimate)
Sciatica N/A N/A No information
Disc Disorders N/A N/A 31 per 1000 (NHIS95: intervertebrate disc disorders)
Herniated disc N/A N/A No information
Back Impairment N/A N/A 85 per 1000 - NHIS95 (deformity or orthopedic impairment of back)
Spinal conditions N/A N/A No information
Spondylolisthesis N/A N/A No information
Paralysis N/A N/A 9 per 1000 - NHIS95 (paralysis of extremeties complete/partial)
Paraplegia N/A N/A No information
Legg-Calve-Perthes disease N/A N/A No information
Myofascial pain syndromes N/A N/A No information
Convulsions N/A N/A No information
Flat feet N/A N/A No information
Foot sprain N/A N/A No information
Knee arthritis N/A N/A No information
Chondromalacia N/A N/A No information
Osgood-Schlatter Disease N/A N/A No information
Paget's Disease N/A N/A No information
Paget's disease of bone N/A N/A about 3% of people aged over 40; 10% by age 80.
Seal finger syndrome N/A N/A No information
Nemaline myopathy 1 N/A N/A No information
Nemaline myopathy 2 N/A N/A No information
Nemaline myopathy 3 N/A N/A No information
Nemaline myopathy 4 N/A N/A No information
Nemaline myopathy 5 N/A N/A No information
Nemaline myopathy 6 N/A N/A No information
Nemaline myopathy 7 N/A N/A No information
Multiple Sclerosis, Susceptibility To, 1 N/A N/A No information
Multiple Sclerosis, Susceptibility To, 2 N/A N/A No information
Multiple Sclerosis, Susceptibility To, 3 N/A N/A No information
Multiple Sclerosis, Susceptibility To, 4 N/A N/A No information
Emery-Dreifuss Muscular Dystrophy 5 N/A N/A No information
Emery-Dreifuss Muscular Dystrophy 4 N/A N/A No information
Emery-Dreifuss Muscular Dystrophy 3 N/A N/A No information
Emery-Dreifuss Muscular Dystrophy 2 N/A N/A No information
Emery-Dreifuss Muscular Dystrophy 1 N/A N/A No information
Emery-Dreifuss Syndrome N/A N/A No information
Osteoarthritis Susceptibility N/A N/A No information
Osteoarthritis Susceptibility 6 N/A N/A No information
Osteoarthritis Susceptibility 5 N/A N/A No information
Osteoarthritis Susceptibility 4 N/A N/A No information
Osteoarthritis Susceptibility 3 N/A N/A No information
Osteoarthritis Susceptibility 2 N/A N/A No information
Osteoarthritis Susceptibility 1 N/A N/A No information
Orofacial Cleft 12 N/A N/A No information
Orofacial Cleft 11 N/A N/A No information
Orofacial Cleft 10 N/A N/A No information
Orofacial Cleft 9 N/A N/A No information
Orofacial Cleft 8 N/A N/A No information
Orofacial Cleft 7 N/A N/A No information
Orofacial Cleft 6, Suseptibility to, N/A N/A No information
Orofacial Cleft 5 N/A N/A No information
Orofacial Cleft 4 N/A N/A No information
Orofacial Cleft 3 N/A N/A No information
Orofacial Cleft 2 N/A N/A No information
Orofacial Cleft 1 N/A N/A No information
Orofacial Cleft N/A N/A No information
Scoliosis, Idiopathic, Susceptibility to, 5 N/A N/A No information
Scoliosis, Idiopathic, Susceptibility to, 4 N/A N/A No information
Scoliosis, Idiopathic, Susceptibility to, 3 N/A N/A No information
Scoliosis, Idiopathic, Susceptibility to, 2 N/A N/A No information
Scoliosis, Idiopathic, Susceptibility to, 1 N/A N/A No information
Amyotrophic lateral sclerosis, 11 N/A N/A No information
Convulsions, benign familial infantile, 3 N/A N/A No information
Convulsions, benign familial infantile, 4 N/A N/A No information
Triphalangeal thumb N/A N/A No information
Ivory Epiphyses N/A N/A No information
Supernumeracy Carpal Bones N/A N/A No information
Carpal Fusion N/A N/A No information
Carpal Synostosis N/A N/A No information
Tarsal Fusion N/A N/A No information
Tarsal Synostosis N/A N/A No information
Inherited Acroosteolysis, phalangeal type N/A N/A No information
Acquired Acroosteolysis, phalangeal type N/A N/A No information
Acroosteolysis N/A N/A No information
Acroosteolysis, phalangeal type N/A N/A No information
Brachymetatarsalia N/A N/A No information
Brachymetatarsalism N/A N/A No information
Brachymetacarpalism N/A N/A No information
Brachymetacarpalia N/A N/A No information
Ulnar Ray Deficiency N/A N/A No information
Radial Ray Deficiency N/A N/A No information
Terminal Transverse Defect N/A N/A No information
Angel-Shaped Phalanges N/A N/A No information
Macrodactyly N/A N/A No information
Fromont Anomaly N/A N/A No information
Polydactyly, Preaxial 1 N/A N/A No information
Polydactyly, Preaxial 2 N/A N/A No information
Polydactyly, Preaxial 3 N/A N/A No information
Psoriatic arthritis, juvenile form N/A N/A No information
Psoriatic Arthritis, susceptibility to N/A N/A No information
Hypoactive deep tendon reflexes N/A N/A No information
Hyperreflexia N/A N/A No information
Hyperreflexia in children N/A N/A No information
Autosomal recessive spastic paraplegia, type 11 N/A N/A No information
Hyperextensible joints N/A N/A No information
Decreased range of motion N/A N/A No information
Decreased reflex response N/A N/A No information
Decreased reflexes N/A N/A No information
Decreased mobility N/A N/A No information
Charcot-Marie-Tooth disease (generic term) N/A N/A No information
Primary dystonia N/A N/A No information
Juvenile idiopathic arthritis, unclassified N/A N/A No information
Juvenile Myasthenia Gravis N/A N/A No information
Congenital Myasthenia Gravis N/A N/A No information
Transient Neonatal Myasthenia Gravis N/A N/A No information
Generalized Myasthenia Gravis N/A N/A No information
Myasthenia, Familial Infantile, 1 N/A N/A No information
Myasthenia Gravis with Thymus Hyperplasia N/A N/A No information
Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors N/A N/A No information
Pontocerebellar Hypoplasia Type 2C N/A N/A No information
Pontocerebellar Hypoplasia Type 2B N/A N/A No information
Pontocerebellar Hypoplasia Type 6 N/A N/A No information
Fetal-onset olivopontocerebellar hypoplasia N/A N/A No information
Pontocerebellar hypoplasia type V N/A N/A No information
Psoriasis arthropathica N/A N/A No information
Primary restless leg syndrome N/A N/A No information
Secondary restless leg syndrome N/A N/A No information
Neurological chronic fatigue syndrome N/A N/A No information
Post-ADD chronic fatigue syndrome N/A N/A No information
Post-viral CFS N/A N/A No information
Infectious CFS N/A N/A No information
Musculoskeletal chronic fatigue syndrome N/A N/A No information
CFS subtype 7 (pain, infectious, musculoskeletal, sleep, neurological, gastrointestinal, neurocognitive, anxiety/depression) N/A N/A No information
CFS subtype 6 (postexertional) N/A N/A No information
CFS subtype 5 (musculoskeletal, gastrointestinal) N/A N/A No information
CFS subtype 4 (cognitive, musculoskeletal, sleep, anxiety/depression) N/A N/A No information
CFS subtype 3 (mild) N/A N/A No information
CFS subtype 2 ( musculoskeletal, pain, anxiety/depression) N/A N/A No information
CFS subtype 1 (cognitive, musculoskeletal, sleep, anxiety/depression) N/A N/A No information
Deposition diseases related fibromyalgia N/A N/A No information
Tension myositis related fibromyalgia N/A N/A No information
Rheumatoid arthritis related fibromyalgia N/A N/A No information
General somatic pain N/A N/A No information
Bone pain N/A N/A No information
Muscle spasm N/A N/A No information
Chronic Back pain N/A N/A No information
Arthritis pain N/A N/A No information
Tempormandibular joint pain N/A N/A No information
Whiplash pain N/A N/A No information
Carpal tunnel syndrome pain N/A N/A No information
Chronic Joint pain N/A N/A No information
Distal muscle weakness N/A N/A No information
Contralateral athetosis N/A N/A No information
Mental retardation -- short stature -- hand contractures -- genital anomalies N/A N/A No information
Rheumatoid Arthritis Associated with Thymus Hyperplasia N/A N/A No information
Thigh Boil N/A N/A No information
Amyotrophic lateral sclerosis N/A N/A 4-8 per 1000,000 people suffer from amyotrophic lateral sclerosis worldwide, Genetics Home Reference website
Lupus N/A N/A 1.4 million people in the United States, 1 in 85 (NWHIC)
Neonatal lupus N/A N/A very rare
Myasthenia Gravis N/A N/A about 5 per 100,000 to 14 per 100,000 (NWHIC)
Systemic lupus erythematoses N/A N/A No information
Renal osteodystrophy N/A N/A No information
Hammer toe N/A N/A No information
Bunions N/A N/A 19.25 per 1000 - NHIS95 (trouble with bunions)
Bunionette N/A N/A No information
Ankle conditions N/A N/A No information
Hip conditions N/A N/A No information
Sprain N/A N/A No information
Osteoarthritis N/A N/A 20 million people (NIAMS); more than 16 million people (NWHIC)
Gout N/A N/A 275 per 100,000 people (NIAMS)
Infectious arthritis N/A N/A No information
Reactive arthritis N/A N/A No information
Fibromyalgia N/A N/A 3.7 million Americans (NIAMS)
Tendinitis N/A N/A No information
Arthrogryposis N/A N/A No information
Polymyalgia rheumatica N/A N/A 700 per 100,000 people over 50.
Hip Replacement N/A N/A No information
Head injury N/A N/A No information
Tremor N/A N/A No information
Essential tremor N/A N/A No information
Orthostatic tremor N/A N/A No information
Tropical Spastic Paraparesis N/A N/A No information
Benign Multiple Sclerosis N/A N/A No information
Relapsing/remitting multiple sclerosis N/A N/A No information
Secondary chronic progressive multiple sclerosis N/A N/A No information
Primary progressive multiple sclerosis N/A N/A No information
Marburg multiple sclerosis N/A N/A No information
Optic-spinal form of multiple sclerosis N/A N/A No information
Hip muscle strain N/A N/A No information
Thigh muscle strain N/A N/A No information
Nerve entrapment N/A N/A No information
Upper back muscle strain N/A N/A No information
Pudendal nerve entrapment N/A N/A No information
Forearm muscle strain N/A N/A No information
Jaw joint disorders N/A N/A No information
Hip Flexor strain N/A N/A No information
Groin muscle strain N/A N/A No information
Joint injury -- knee N/A N/A No information
Ankle Osteoarthritis N/A N/A No information
Strain N/A N/A No information
Ankle injuries N/A N/A No information
Ankle sprain N/A N/A No information
Knee sprain N/A N/A No information
Wrist sprain N/A N/A No information
Acromegaly N/A N/A 40-60 per million affected people at any time
Acute gout N/A N/A No information
Systemic Juvenile Rheumatoid Arthritis N/A N/A No information
Juvenile Rheumatoid Arthritis N/A N/A No information
Guillain-Barre Syndrome N/A N/A about 1 in 100,000 (NWHIC)
Balo disease N/A N/A No information
Chronic Fatigue Syndrome N/A N/A 500,000 Americans (CDC/NIAID)
Polychondritis N/A N/A No information
Relapsing Polychondritis N/A N/A No information
Post-polio syndrome N/A N/A No information
Lumbago N/A N/A No information
Lordosis N/A N/A No information
Spondylosis N/A N/A No information
Spondylitis N/A N/A No information
Ankylosing Spondylitis N/A N/A 129 of every 100,000 people in the US (Mayo Clinic)
Spastic paraparesis N/A N/A No information
Achilles tendonitis N/A N/A No information
Shin splints N/A N/A No information
Tarsal tunnel syndrome N/A N/A No information
Degenerative Disc Disease N/A N/A No information
Rheumatoid arthritis N/A N/A 2.5 million Americans (NWHIC); 1% of US population (NIAMS)
Multiple Sclerosis N/A N/A 1-in-700 (NIAID)
Psoriatic Arthritis N/A N/A No information
Myoclonus N/A N/A No information
Chorea N/A N/A No information
Sydenham chorea N/A N/A No information
Batten Disease N/A N/A No information
Ceroid lipofuscinosis, neuronal 3, Juvenile N/A N/A No information
Ceroid lipofuscinosis, neuronal 4 N/A N/A No information
Ceroid lipofuscinosis, neuronal 6, late infantile N/A N/A No information
Ceroid lipofuscinosis, neuronal 8, northern epilepsy variant N/A N/A No information
Ceroid lipofuscinosis, neuronal 5 N/A N/A No information
Ceroid lipofuscinosis, neuronal 7 N/A N/A No information
Ceroid lipofuscinosis, neuronal 8 N/A N/A No information
Ceroid lipofuscinosis, neuronal 9 N/A N/A No information
Ceroid lipofuscinosis, neuronal 10 N/A N/A No information
Ceroid lipofuscinosis, neuronal N/A N/A No information
Ceroid lipofuscinosis, neuronal 1, infantile N/A N/A No information
Ceroid lipofuscinosis, neuronal 2, late infantile type N/A N/A No information
Santavuori Disease N/A N/A No information
Bielschowsky disease N/A N/A No information
Primary Lateral Sclerosis N/A N/A rare
Restless Legs Syndrome N/A N/A No information
Periodic limb movements in sleep N/A N/A No information
Trigger finger N/A N/A No information
Writer's cramp N/A N/A No information
Repetitive Strain Injury N/A N/A No information
Hand-Arm Vibration Syndrome N/A N/A No information
Tennis elbow N/A N/A No information
Golfer's elbow N/A N/A No information
Repetitive Motion Disorders N/A N/A No information
Bursitis N/A N/A 32 per 1000 (NHIS95)
Epicondylitis N/A N/A No information
Ganglion cyst N/A N/A No information
Multifocal motor neuropathy N/A N/A No information
Myopathy N/A N/A No information
Phosphoglycerate Kinase Deficiency N/A N/A No information
Carnitine Deficiency Syndromes N/A N/A No information
Carnitine Palmitoyl Transferase II Deficiency N/A N/A No information
Type V Glycogen Storage Disease N/A N/A No information
McArdle disease N/A N/A No information
Forbes disease N/A N/A No information
Type IV Glycogen Storage Disease N/A N/A No information
Type VII Glycogen Storage Disease N/A N/A No information
Type III Glycogen Storage Disease N/A N/A No information
Carnitine Palmitoyl Transferase I Deficiency N/A N/A No information
Charcot-Marie-Tooth disease, X-linked recessive, 4 N/A N/A No information
Marfan Syndrome type 2 N/A N/A No information
Spastic paraplegia 6, autosomal dominant N/A N/A No information
Charcot-Marie-Tooth disease, X-linked recessive, 5 N/A N/A No information
Ehlers-Danlos syndrome, Beasley Cohen type N/A N/A No information
Ehlers-Danlos syndrome, progeroid form N/A N/A No information
Ehlers-Danlos syndrome with periventricular heterotopia N/A N/A No information
Microgastria short stature diabetes N/A N/A No information
Osteogenesis imperfecta, type 2A N/A N/A No information
Osteogenesis imperfecta, type IIB N/A N/A No information
Osteogenesis imperfecta, type VIII N/A N/A No information
Osteitis N/A N/A No information
Osteoarthritis, Hip N/A N/A No information
Whiplash Injuries N/A N/A No information
Tibial Fractures N/A N/A No information
Wounds, Stab N/A N/A No information
Joint clicking N/A N/A No information
Astasis N/A N/A No information
Hip sprain N/A N/A No information
Upper back sprain N/A N/A No information
Bicep muscle strain N/A N/A No information
Elbow sprain N/A N/A No information
Toe sprain N/A N/A No information
Radial Nerve Entrapment N/A N/A No information
Finger Arthritis N/A N/A No information
Turf toe N/A N/A No information
Skier's thumb N/A N/A No information
Anterior Interosseous Nerve Compression N/A N/A No information
Focal motor seizure N/A N/A No information
Posterior Interosseous Nerve Syndrome N/A N/A No information
Joint injury -- finger N/A N/A No information
Myoclonic seizures N/A N/A No information
Elbow Osteoarthritis N/A N/A No information
Toe Osteoarthritis N/A N/A No information
Guyon tunnel syndrome N/A N/A No information
Gamekeeper's thumb N/A N/A No information
Finger sprain N/A N/A No information
Calf muscle strain N/A N/A No information
Hand muscle strain N/A N/A No information
Ankle Arthritis N/A N/A No information
Anterior Interosseous Nerve Syndrome N/A N/A No information
Muscle strain N/A N/A No information
Hip Arthritis N/A N/A No information
Elbow Arthritis N/A N/A No information
Shoulder sprain N/A N/A No information
Toe Arthritis N/A N/A No information
Radial Tunnel Syndrome N/A N/A No information
Tricep muscle strain N/A N/A No information
Nerve compression N/A N/A No information
Boutonniere deformity N/A N/A No information
Joint injury -- hip N/A N/A No information
Shoulder muscle strain N/A N/A No information
Joint injury -- elbow N/A N/A No information
Upper arm muscle strain N/A N/A No information
Intersection syndrome N/A N/A No information
Wrist Arthritis N/A N/A No information
Shoulder Osteoarthritis N/A N/A No information
Joint injury -- wrist N/A N/A No information
Jaw Clicking N/A N/A No information
Upper motor neuron lesions like hyperactive DTRs in the legs N/A N/A No information
Muscle weakness and atrophy as in case of diabetes mellitus N/A N/A No information
Weak bones similar to that of osteogenesis imperfecta N/A N/A No information
Osteoporosis-like fracture of the hip N/A N/A No information
Carpal spasm N/A N/A No information
Mask facies as in case of Parkinson's disease N/A N/A No information
Medication induced osteoporosis N/A N/A No information
Secondary osteoporosis N/A N/A No information
Primary osteoporosis N/A N/A No information
Diabetes like foot weakness N/A N/A No information
Septic arthritis like stiff back N/A N/A No information
Inability to relax a muscle after its contraction N/A N/A No information
Arthralgia similar to that in rheumatoid arthritis N/A N/A No information
Chronic fatigue syndrome- like myalgia N/A N/A No information
Small, unstable nodules as seen in osteoarthritis N/A N/A No information
Ankle clonus N/A N/A No information
Medication induced muscle weakness N/A N/A No information
Spinal pain and rigidity N/A N/A No information
Choreoathetosis N/A N/A No information
Difficulty making fine hand movements N/A N/A No information
Pancoast's syndrome N/A N/A No information
Restless leg syndrome N/A N/A No information
Choreiform movements as seen in rheumatic fever N/A N/A No information
Rheumatic fever-like chorea N/A N/A No information
Cogwheel rigidity N/A N/A No information
Gullian-Barre-like hyporeflexia N/A N/A No information
Pfeiffer Syndrome Type I N/A N/A No information
Pfeiffer Syndrome Type II N/A N/A No information
Pfeiffer Syndrome Type III N/A N/A No information
Acrocephalosyndactyly Syndrome type 5 N/A N/A No information
Acrocephalosyndactyly type 5 (ACPS 5) N/A N/A No information
Pfeiffer syndrome N/A N/A 1 per 100,000 people suffer from Pfeiffer syndrome, Genetics Home Reference website
Pfeiffer syndrome Type 1 N/A N/A No information
Pfeiffer syndrome Type 2 N/A N/A No information
Pfeiffer syndrome Type 3 N/A N/A No information
Absence of gluteal muscle N/A N/A No information
Absence of tibia N/A N/A No information
Absence of tibia with polydactyly N/A N/A No information
Ehlers-Danlos syndrome type V N/A N/A No information
Ehlers-Danlos syndrome type X N/A N/A No information
Ehlers-Danlos syndrome, 6B N/A N/A No information
Ehlers-Danlos syndrome N/A N/A estimated 1 per 250,000 people suffer from the vascular type of Ehlers-Danlos syndrome, Genetics Home Reference website
Ehlers-Danlos syndrome, hypermobile type N/A N/A No information
Osteogenesis imperfecta, type 1A N/A N/A No information
Osteogenesis imperfecta, type 1B N/A N/A No information
Ehlers-Danlos syndrome, hypermobility type N/A N/A No information
Ehlers-Danlos syndrome, progeroid form 2 N/A N/A No information
Ehlers-Danlos syndrome type II N/A N/A No information
Ehlers-Danlos syndrome, arthrochalasic type N/A N/A No information
Ehlers-Danlos syndrome type VIII N/A N/A No information
Ehlers-Danlos syndrome type VI N/A N/A No information
Ehlers-Danlos syndrome type IV N/A N/A No information
Ehlers-Danlos syndrome type IX N/A N/A No information
Ehlers-Danlos syndrome, vascular type N/A N/A No information
Ehlers-Danlos syndrome, dermatospraxis type N/A N/A No information
Ehlers-Danlos syndrome, kyphoscoliosis type N/A N/A No information
Osteogenesis imperfecta Type I N/A N/A 3-4 per 100,000 people are affected by osteogenesis imperfecta type I worldwide, Genetics Home Reference website
Ehlers-Danlos syndrome, tenascin-X deficiency N/A N/A No information
Ehlers-Danlos syndrome, cardiac valvular form N/A N/A No information
Ehlers-Danlos syndrome type III N/A N/A No information
Ehlers-Danlos syndrome, classic type N/A N/A No information
Ehlers-Danlos syndrome Type I N/A N/A No information
Ehlers-Danlos syndrome, X-linked N/A N/A No information
Ehlers-Danlos syndrome, VIIB N/A N/A No information
Ehlers-Danlos Syndrome, Dysfibronectinemic type N/A N/A No information
Ehlers-Danlos syndrome with Platelet Dysfunction from Fibronectin Abnormality N/A N/A No information
Ehlers-Danlos syndrome type VII N/A N/A No information
Ehlers-Danlos syndrome caused by tenascin-X deficiency N/A N/A No information
Ehlers Danlos syndrome type 4, autosomal dominant N/A N/A No information
Ehlers-Danlos, syndrome, periodontitis type N/A N/A No information
Ehlers-Danlos syndrome type 3 N/A N/A No information
Ehlers-Danlos syndrome type 4 N/A N/A No information
Ehlers-Danlos syndrome, dermatosparaxis type N/A N/A No information
Charcot-Marie-Tooth disease -- deafness N/A N/A No information
Charcot-Marie-Tooth Disorder N/A N/A 150,000 people are affected by Charcot-Marie-Tooth disease in the US, Genetics Home Reference website
Charcot disease N/A N/A No information
Charcot-Marie-Tooth disease, Type 2K N/A N/A No information
Charcot-Marie-Tooth disease with ptosis and parkinsonism N/A N/A No information
Charcot-Marie-Tooth type 1 aplasia cutis congenital N/A N/A No information
Torsion dystonia 7 N/A N/A No information
Charcot-Marie-Tooth disease, Type 2B1 N/A N/A No information
Charcot-Marie-Tooth disease, Type 2B2 N/A N/A No information
Charcot-Marie-Tooth disease, Type 4B1 N/A N/A No information
Charcot-Marie-Tooth disease, Type 4B2 N/A N/A No information
Charcot-Marie-Tooth disease, Type 2AI N/A N/A No information
Charcot-Marie-Tooth disease, dominant intermediate 1 N/A N/A No information
Charcot-Marie-Tooth disease, dominant intermediate 2 N/A N/A No information
Charcot-Marie-Tooth disease, dominant intermediate 3 N/A N/A No information
Spastic paraplegia type 1, X-linked N/A N/A No information
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma N/A N/A No information
Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant N/A N/A No information
Charcot-Marie-Tooth disease, Type 2F N/A N/A No information
Autosomal Dominant Charcot-Marie-Tooth with hearing loss N/A N/A No information
Spastic Paraplegia 18, Autosomal Recessive N/A N/A No information
Spastic paraplegia 11, autosomal recessive N/A N/A No information
Spastic paraplegia 23 N/A N/A No information
Spastic paraplegia 17 N/A N/A No information
Spastic paraplegia 20, autosomal recessive N/A N/A No information
Spastic paraplegia 14, autosomal recessive N/A N/A No information
Spastic paraplegia 15, autosomal recessive N/A N/A No information
Spastic paraplegia 25, autosomal recessive N/A N/A No information
Spastic paraplegia 26, autosomal recessive N/A N/A No information
Spastic paraplegia 16, X-linked N/A N/A No information
Complex 5 mitochondrial respiratory chain deficiency N/A N/A No information
Spastic paraplegia 10, autosomal dominant N/A N/A No information
Spastic paraplegia 12, autosomal dominant N/A N/A No information
Spastic paraplegia 13, autosomal dominant N/A N/A No information
Spastic paraplegia 19, autosomal dominant N/A N/A No information
Spastic paraplegia 29, autosomal dominant N/A N/A No information
Spastic paraplegia 7, autosomal recessive N/A N/A No information
Spastic paraplegia 39, autosomal recessive N/A N/A No information
Spastic paraplegia 31, autosomal dominant N/A N/A No information
Complex 4 mitochondrial respiratory chain deficiency, benign infantile myopathy N/A N/A No information
Complex 4 mitochondrial respiratory chain deficiency, fatal infant myopathy type N/A N/A No information
Osgood Schlatter Condition N/A N/A No information
Complex 4 mitochondrial respiratory chain deficiency N/A N/A No information
Complex 1 mitochondrial respiratory chain deficiency N/A N/A No information
Complex 2 mitochondrial respiratory chain deficiency N/A N/A No information
Polydactyly preaxial N/A N/A No information
Syndactyly type 1 N/A N/A No information
Syndactyly type 1 -- subtype 1 N/A N/A No information
Syndactyly type 1 -- subtype 2 N/A N/A No information
Syndactyly type 1 -- subtype 3 N/A N/A No information
Syndactyly type 1 -- subtype 4 N/A N/A No information
Syndactyly N/A N/A No information
Syndactyly, type 2 N/A N/A No information
Syndactyly, type 3 N/A N/A No information
Syndactyly type 5 N/A N/A No information
Chiari Malformation N/A N/A No information
Chiari-1 Malformation N/A N/A No information
Arnold-Chiari Malformation (Type 1) N/A N/A No information
Arnold-Chiari Syndrome N/A N/A No information
Arnold-Chiari malformation type 2 N/A N/A No information
Arnold-Chiari malformation type 3 N/A N/A No information
Arnold-Chiari malformation type 4 N/A N/A No information
Parkinsonism, early onset with mental retardation N/A N/A No information
Berardinelli-Seip congenital lipodystrophy N/A N/A No information
Berardinelli-Seip congenital lipodystrophy, type 1 N/A N/A No information
Berardinelli-Seip congenital lipodystrophy, type 2 N/A N/A No information
Cerebral Palsy N/A N/A No information
Amyotrophic lateral sclerosis 7 N/A N/A No information
Amyotrophic lateral sclerosis 8 N/A N/A No information
Amyotrophic lateral sclerosis, 9 N/A N/A No information
Amyotrophic lateral sclerosis 2, juvenile N/A N/A No information
Amyotrophic lateral sclerosis 4, juvenile N/A N/A No information
Amyotrophic lateral sclerosis, type 6 N/A N/A No information
Amyotrophic lateral sclerosis, familial type 1 N/A N/A No information
Amyotrophic lateral sclerosis, familial type 2 N/A N/A familial amyotrophic lateral sclerosis type 2 has been reported in only a few families, Genetics Home Reference website
Amyotrophic lateral sclerosis, familial type 3 N/A N/A No information
Amyotrophic lateral sclerosis, familial type 4 N/A N/A familial amyotrophic lateral sclerosis type 4 has been reported in only a few families, Genetics Home Reference website
Amyotrophic lateral sclerosis, familial type 5 N/A N/A No information
Amyotrophic lateral sclerosis, familial type 6 N/A N/A No information
Amyotrophic lateral sclerosis, familial type 7 N/A N/A No information
Amyotrophic lateral sclerosis, familial type 8 N/A N/A familial amyotrophic lateral sclerosis type 4 has been reported in only a few families, Genetics Home Reference website
Amyotrophic lateral sclerosis, familial N/A N/A 10% of all cases of amyotrophic lateral sclerosis are familial, Genetics Home Reference website
Amyotrophic lateral sclerosis type 1 N/A N/A 3% of sporadic cases of amyotrophic lateral sclerosis are type 1, Genetics Home Reference website
Amyotrophic lateral sclerosis-parkinsonism-dementia complex N/A N/A No information
Amyotrophic lateral sclerosis 3 N/A N/A No information
Amyotrophic lateral sclerosis 5 N/A N/A No information
Amyotrophic lateral sclerosis 6 N/A N/A No information
Osteogenesis imperfecta, Type VI N/A N/A No information
Osteogenesis imperfecta -- congenital joint contractures N/A N/A No information
Osteogenesis imperfecta N/A N/A 6-7 per 100,000 people are affected by osteogenesis imperfecta worldwide, Genetics Home Reference website
Osteogenesis imperfecta, type 2 N/A N/A No information
Osteogenesis imperfecta, type 3 N/A N/A No information
Osteogenesis imperfecta, type 4 N/A N/A No information
Osteogenesis imperfecta, type 5 N/A N/A No information
Osteogenesis imperfecta, type 6 N/A N/A No information
Osteogenesis imperfecta, Levin type N/A N/A No information
Osteogenesis imperfecta type IIII N/A N/A 1-2 per 100,000 people are affected by osteogenesis imperfecta type IIII worldwide, Genetics Home Reference website
Osteogenesis imperfecta type II N/A N/A 1-2 per 100,000 people are affected by osteogenesis imperfecta type II worldwide, Genetics Home Reference website
Osteogenesis imperfecta type IV N/A N/A 3-4 per 100,000 people are affected by osteogenesis imperfecta type IV worldwide, Genetics Home Reference website
Osteogenesis imperfecta, type 7 N/A N/A No information
Amputation N/A N/A 7 per 1000 (NHIS95: excludes toes/fingers only)
Orthopedic disorders N/A N/A 149 per 1000 - NHIS95
Foot injury N/A N/A No information
Iliotibial Band Syndrome N/A N/A No information
Plica Syndrome N/A N/A No information
Meniscus injury N/A N/A No information
Knock knees N/A N/A No information
Osteochondroses N/A N/A No information
Tick paralysis N/A N/A No information
Catalepsy N/A N/A No information
Heat cramps N/A N/A No information
Ruptured achilles tendon N/A N/A No information
Ankylosis N/A N/A No information
Gigantism N/A N/A No information
Mild cramps N/A N/A No information
Severe muscle pain N/A N/A No information
Temporary paralysis N/A N/A No information
Occasional tremors N/A N/A No information
Bardet-Biedl syndrome, type 9 N/A N/A No information
Bardet-Biedl syndrome, type 8 N/A N/A No information
Bardet-Biedl Syndrome N/A N/A No information
Bardet-Biedl syndrome, type 10 N/A N/A No information
Bardet-Biedl syndrome, type 11 N/A N/A No information
Bardet-Biedl syndrome, type 12 N/A N/A No information
Bardet-Biedl syndrome, type 1 N/A N/A No information
Bardet-Biedl syndrome, type 2 N/A N/A No information
Bardet-Biedl syndrome, type 3 N/A N/A No information
Bardet-Biedl syndrome, type 4 N/A N/A No information
Bardet-Biedl syndrome, type 5 N/A N/A No information
Bardet-Biedl syndrome, type 7 N/A N/A No information
Bardet-Biedl syndrome, type 6 N/A N/A No information
Glycogen storage disease type 2B -- formerly N/A N/A No information
Pseudoglycogenosis II N/A N/A No information
Glycogen Storage Disease IIb -- formerly N/A N/A No information
GSD2B -- formerly N/A N/A No information
GSD IIB -- formerly N/A N/A No information
Glycogen Storage Disease IXb N/A N/A No information
Glycogen Storage Disease IXa1 N/A N/A No information
Glycogen Storage Disease IXc N/A N/A No information
Type II Glycogen Storage Disease N/A N/A No information
Glycogen storage diseases N/A N/A No information
Glycogen storage disease type 2 N/A N/A No information
Glycogen storage disease type 7 N/A N/A No information
Glycogen storage disease type 2B N/A N/A No information
Myoclonus epilepsy partial seizure N/A N/A No information
Infantile parkinsonism N/A N/A No information
Spinocerebellar ataxia 3 N/A N/A No information
Elbow injury N/A N/A No information
Forearm injury N/A N/A No information
Cartilage disorders N/A N/A No information
Chondrodysplasia N/A N/A No information
Congenital short femur N/A N/A No information
Klippel-Feil syndrome recessive type N/A N/A No information
Klippel-Feil syndrome, dominant type N/A N/A No information
Frontonasal dysplasia -- Klippel Feil syndrome N/A N/A No information
Klippel Feil Syndrome N/A N/A rare
Klippel Feil deformity conductive deafness absent vagina N/A N/A No information
Congenital Muscular Dystrophy N/A N/A No information
Craniosynostosis N/A N/A No information
Congenital hip dislocation N/A N/A No information
Dwarfism N/A N/A No information
Hemophilic arthropathy N/A N/A No information
Polyarthritis, rheumatic factor-negative N/A N/A No information
Positive rheumatoid factor polyarthritis N/A N/A No information
Parkinson disease, juvenile, autosomal recessive N/A N/A No information
Microcephaly -- chorioretinopathy, recessive form N/A N/A No information
Split hand/split foot malformation, autosomal recessive N/A N/A No information
Torticollis, familial N/A N/A No information
Spinal bulbar motor neuropathy N/A N/A No information
Erb's dystrophy N/A N/A No information
Mental retardation, X-linked -- hypogonadism -- ichthyosis -- obesity -- short stature N/A N/A No information
Mental retardation, X-linked -- hypotonia -- facial dysmorphism -- aggressive behavior N/A N/A No information
Mental retardation, X-linked -- choreoathesis -- abnormal behavior N/A N/A No information
Mental retardation, X-linked -- corpus callosum agenesis -- spastic quadriparesis N/A N/A No information
Mental retardation, X-linked -- epilepsy -- progressive joint contractures -- typical face N/A N/A No information
Mental retardation, X-linked -- acromegaly -- hyperactivity N/A N/A No information
Mental retardation, X-linked -- macrocephaly -- macro-orchidism N/A N/A No information
Mental retardation, X-linked recessive -- macrocephaly -- ciliary dysfunction N/A N/A No information
Mental retardation, X-linked -- craniofacial dysmorphology -- epilepsy -- ophthalmoplegia -- cerebellar atrophy N/A N/A No information
Proximal spinal muscular atrophy, type 3 N/A N/A No information
Nystagmus, myoclonic N/A N/A No information
Myoclonic progressive familial epilepsy N/A N/A No information
Parkinson disease, familial, Type 1 N/A N/A No information
Short stature -- valvular heart disease N/A N/A No information
Parkinson disease 12 N/A N/A No information
Parkinson disease 13 N/A N/A No information
Parkinsonism, early-onset -- mental retardation N/A N/A No information
Parkinson disease 3 N/A N/A No information
Parkinson disease 9 N/A N/A No information
Parkinson disease 8 N/A N/A No information
Parkinson disease 6, autosomal recessive, recessive early-onset N/A N/A No information
Parkinson disease 10 N/A N/A No information
Parkinson disease 11 N/A N/A No information
Myopathy, Distal 3 N/A N/A No information
Myopathy, Distal 2 N/A N/A No information
Distal Myopathy 1 N/A N/A No information
Muscle cramps N/A N/A No information
Torticollis N/A N/A No information
Spasmodic Torticollis N/A N/A No information
Finger clubbing N/A N/A No information
Cramp N/A N/A No information
Dystonia 6, torsion N/A N/A No information
Preaxial deficiency, postaxial polydactyly and hypospadias N/A N/A No information
Preaxial deficiency postaxial polydactyly hypospadias N/A N/A No information
Spinocerebellar ataxia, autosomal recessive 2 N/A N/A No information
Adducted thumbs -- arthrogryposis, Christian type N/A N/A No information
Short stature cranial hyperostosis hepatomegaly diabetes N/A N/A No information
Craniosynostosis -- brachysyndactyly of hands and absence of toes N/A N/A No information
Short stature valvular heart disease characteristic facies N/A N/A No information
Ulnar hypoplasia with mental retardation N/A N/A No information
X-linked mental retardation craniofacial abnormal microcepahly club N/A N/A No information
Alopecia-contractures-dwarfism-mental retardation N/A N/A No information
Blepharophimosis -- ptosis -- syndactyly -- mental retardation N/A N/A No information
Brachydactyly -- dwarfism -- mental retardation N/A N/A No information
Brachydactyly -- mesomelia -- mental retardation -- heart defects N/A N/A No information
Short stature mental retardation eye anomalies N/A N/A No information
Extrasystoles -- short stature -- hyperpigmentation -- microcephaly N/A N/A No information
Poikilodermatomyositis -- mental retardation N/A N/A No information
Polydactyly -- myopia syndrome N/A N/A No information
Mental retardation sparse hair brachydactyly N/A N/A No information
Mental retardation, X-linked -- hypotonia -- recurrent Infections N/A N/A No information
Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity N/A N/A No information
Mental retardation -- hypotonia -- skin hyperpigmentation N/A N/A No information
Mental retardation, X-linked with brachydactyly and macroglossia N/A N/A No information
Klippel Trenaunay Weber syndrome N/A N/A No information
Klippel-Trenaunay Syndrome N/A N/A No information
Brachydactyly -- anonychia N/A N/A No information
Dwarfism, short-limb -- absent fibulas -- very short digits N/A N/A No information
Severe mental retardation and absent nails of hallux and pollex N/A N/A No information
Hypoplastic thumbs -- hydranencephaly N/A N/A No information
Dentinogenesis imperfecta -- short stature -- hearing loss -- mental retardation N/A N/A No information
Pterygia -- mental retardation -- facial dysmorphism N/A N/A No information
Deafness -- goiter -- stippled epiphyses N/A N/A No information
Dwarfism -- deafness -- retinitis pigmentosa N/A N/A No information
Intracranial aneurysms -- multiple congenital anomaly N/A N/A No information
Deafness -- hypospadias -- metacarpal and metatarsal synostosis N/A N/A No information
Tibial aplasia -- ectrodactyly -- hydrocephalus N/A N/A No information
Microcephaly -- cervical spine fusion anomalies N/A N/A No information
Fetal brain disruption sequence N/A N/A No information
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy N/A N/A No information
Dandy-Walker malformation postaxial polydactyly N/A N/A No information
Ophthalmoplegia, progressive external -- scoliosis N/A N/A No information
Epiphyseal dysplasia -- hearing loss -- dysmorphism N/A N/A No information
Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy N/A N/A No information
Deafness -- craniofacial syndrome N/A N/A No information
Microcephaly -- seizures -- mental retardation -- heart disorders N/A N/A No information
Short rib-polydactyly syndrome, Verma-Naumoff type N/A N/A No information
Intellectual deficit -- short stature -- microcephaly -- eye anomalies N/A N/A No information
Syndromic Dystelephalangy N/A N/A No information
Deafness symphalangism N/A N/A No information
Polytopic Dystelephalangy N/A N/A No information
Dystelephalangy N/A N/A No information
Deafness -- onychodystrophy -- osteodystrophy -- mental retardation N/A N/A No information
Split hand split foot nystagmus N/A N/A No information
Deafness -- epiphyseal dysplasia -- short stature N/A N/A No information
Craniosynostosis -- cataract N/A N/A No information
Craniosynostosis -- intracranial calcifications N/A N/A No information
Craniosynostosis mental retardation clefting syndrome N/A N/A No information
Short stature -- Robin sequence -- cleft mandible -- hand anomalies -- clubfoot N/A N/A No information
Microcephaly -- sparse hair -- mental retardation -- seizures N/A N/A No information
Ataxia-oculomotor apraxia syndrome N/A N/A No information
Deafness conductive -- ptosis -- skeletal anomalies N/A N/A No information
Anophthalmos with limb anomalies N/A N/A No information
Deafness -- skeletal dysplasia -- lip granuloma N/A N/A No information
Mental Retardation, Joint Hypermobility With or without Metabolic Abnormalities N/A N/A No information
Polydactyly visceral anomalies cleft lip palate N/A N/A No information
Short stature -- craniofacial anomalies -- genital hypoplasia N/A N/A No information
Pterygia -- Mental retardation -- Distinctive Craniofacial Features N/A N/A No information
Distinctive Craniofacial Features -- Pterygia -- Mental Retardation N/A N/A No information
Mental Retardation -- Pterygia -- Shortness -- Distinctive Facial Appearance N/A N/A No information
Spastic paraplegia epilepsy mental retardation N/A N/A No information
Craniosynostosis -- Dandy-Walker -- Hydrocephalus N/A N/A No information
Mental retardation -- osteosclerosis N/A N/A No information
Mental retardation athetosis microphthalmia N/A N/A No information
Mental retardation -- contractural arachnodactyly N/A N/A No information
Mental retardation -- skeletal dysplasia -- abducens palsy N/A N/A No information
Microcephaly with spastic quadriplegia N/A N/A No information
Mental retardation -- short stature -- scoliosis N/A N/A No information
Short stature -- microcephaly -- seizures -- deafness N/A N/A No information
Mental retardation -- short stature -- unusual facies N/A N/A No information
Mental retardation, X-linked -- dystonia -- dysarthria N/A N/A No information
Mental retardation -- short stature -- absent phalanges N/A N/A No information
Mental retardation -- short stature -- deafness -- genital N/A N/A No information
Microcephaly -- mesobrachyphalangy -- tracheoesophageal fistula syndrome N/A N/A No information
Onychonychia -- hypoplastic distal phalanges N/A N/A No information
Split hand/foot malformation X-linked N/A N/A No information
Micromelic dysplasia -- dislocation of radius N/A N/A No information
Reductional transverse limb defects N/A N/A No information
Short limbs -- abnormal face -- congenital heart disease N/A N/A No information
Ataxia spastic congenital miosis N/A N/A No information
Athetosis N/A N/A No information
ATRUS syndrome N/A N/A No information
Aural atresia -- multiple congenital anomalies -- mental retardation N/A N/A No information
Congenital heart disease radio ulnar synostos mental retardation N/A N/A No information
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate N/A N/A No information
Macrocephaly -- mental retardation -- facial dysmorphism N/A N/A No information
Macrocephaly mesodermal hamartoma spectrum N/A N/A No information
Hypodontia and Dupuytren contracture N/A N/A No information
Unusual facies, macrocephaly, aplasia of corpus callosum, seizures, hypertrichosis, claw hands and overlapping fingers N/A N/A No information
Spinocerebellar ataxia, autosomal recessive 7 N/A N/A No information
Spinocerebellar ataxia, autosomal recessive 9 N/A N/A No information
Chorioretinopathy -- microcephaly, autosomal recessive N/A N/A No information
Unusual facies, arachnodactyly, hypogenitalism and failure to thrive N/A N/A No information
Limb reduction defect (generic term) N/A N/A No information
Facio-auriculo-radial dysplasia N/A N/A No information
Global developmental delay -- osteopenia -- ectodermal defect N/A N/A No information
Lethal arthrogryposis with anterior horn cell disease N/A N/A No information
Fronto-temporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17) N/A N/A No information
Premature chromosome condensation with microcephaly and mental retardation N/A N/A No information
Unusual facies, short webbed neck, mental retardation, short stature N/A N/A No information
Febrile convulsions, familial, 1 N/A N/A No information
Febrile convulsions, familial, 2 N/A N/A No information
Febrile convulsions, familial, 3 N/A N/A No information
Febrile convulsions, familial, 4 N/A N/A No information
Febrile convulsions, familial, 5 N/A N/A No information
Febrile convulsions, familial, 6 N/A N/A No information
Febrile convulsions, familial, 7 N/A N/A No information
Febrile convulsions, familial, 8 N/A N/A No information
Febrile convulsions, familial, 9 N/A N/A No information
Posterior tibial tendon rupture N/A N/A No information
Spinocerebellar ataxia 8 N/A N/A No information
Spinocerebellar ataxia, X-linked, 5 N/A N/A No information
Spinocerebellar ataxia -- dysmorphism N/A N/A No information
Spinocerebellar ataxia with axonal neuropathy, type 2 N/A N/A No information
Spinocerebellar ataxia, X-linked, type 4 N/A N/A No information
Spinocerebellar Ataxia 9 N/A N/A No information
Myotonic Dystrophy N/A N/A Type I myotonic dystrophy accounts for 98% of all cases of myotonic dystrophy, Genetics Home Reference website
Friedreich's ataxia N/A N/A No information
Spinocerebellar Ataxia N/A N/A No information
Myoclonus epilepsy N/A N/A No information
Alternating Hemiplegia N/A N/A rare
Motor neuron diseases N/A N/A No information
Carpal Tunnel Syndrome N/A N/A No information
Dystonias N/A N/A No information
Hemifacial Spasm N/A N/A No information
Hereditary Spastic Paraplegia N/A N/A No information
Opsoclonus Myoclonus N/A N/A No information
Coccyx injury N/A N/A No information
Quadriplegia N/A N/A No information
Seronegative Arthritis N/A N/A No information
Neck Arthritis N/A N/A No information
Spinal Arthritis N/A N/A No information
Polyarthritis N/A N/A No information
Spondylarthropathy N/A N/A No information
Plantar Fasciitis N/A N/A No information
Tarsal tunnel N/A N/A No information
Torsion dystonia, X-linked N/A N/A No information
Neurosyphilis -- general paresis N/A N/A No information
Hereditary spastic paralysis, infantile onset ascending N/A N/A No information
Friedreich ataxia N/A N/A estimated 1 per 40,000 people are affected by Friedreich ataxia, Genetics Home Reference website
Spinal muscular atrophy with respiratory distress 1 N/A N/A No information
Spinal muscular atrophy type 2 N/A N/A No information
Spinal muscular atrophy, type I, with congenital bone fractures N/A N/A No information
Spinal muscular atrophy, Ryukyuan type N/A N/A No information
Athetoid Cerebral Palsy N/A N/A No information
Mixed Cerebral Palsy N/A N/A No information
Cerebral Palsy, Ataxic, Autosomal Recessive N/A N/A No information
Cerebral Palsy, Spastic Quadriplegic, 1 N/A N/A No information
Cerebral Palsy, Spastic Quadriplegic, 2 N/A N/A No information
Cerebral Palsy, Spastic Quadriplegic, 3 N/A N/A No information
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal abnormalities N/A N/A No information
Microcephaly -- microphthalmia -- ectrodactyly of lower limbs -- prognathism N/A N/A No information
Neurological causes of muscle weakness N/A N/A No information
Epilepsy-like myoclonic jerks N/A N/A No information
Decerebrate posture as in case of brainstem transection N/A N/A No information
Down's syndrome-like hypotonia N/A N/A No information
Bowed legs N/A N/A No information
Extraocular motor nerve palsies N/A N/A No information
Sprains and strains N/A N/A No information
Achilles tendon contracture N/A N/A No information
Ortolani's sign N/A N/A No information
Opisthotonos N/A N/A No information
Accessory muscle use N/A N/A No information
Battle's sign N/A N/A No information
Barrel chest N/A N/A No information
Sacroilitis N/A N/A No information
Fibrous Dysplasia N/A N/A No information
Arthrosis N/A N/A No information
Tietze syndrome N/A N/A No information
Rheumatism N/A N/A No information
Carpopedal spasm N/A N/A No information
Brudzinski's sign N/A N/A No information
Psoas sign N/A N/A No information
Footdrop N/A N/A No information
Sternal malformation vascular dysplasia association N/A N/A No information
McMurray's sign N/A N/A No information
Patella hypoplasia -- mental retardation N/A N/A No information
Orofaciodigital syndrome, Shashi type N/A N/A No information
Orofaciodigital syndrome type1 N/A N/A No information
Oral facial digital syndrome, type 4 N/A N/A No information
Orofaciodigital syndrome, type 3 N/A N/A No information
Sugarman syndrome N/A N/A No information
Orofaciodigital syndrome type 10 N/A N/A No information
Orofaciodigital syndrome type Thurston type N/A N/A No information
Orofaciodigital syndrome type I N/A N/A No information
OFD syndrome type Figuera N/A N/A No information
Oral facial digital syndrome N/A N/A No information
Oral facial digital syndrome, type IV N/A N/A No information
OFD syndrome type IX N/A N/A No information
OFD syndrome type 8 N/A N/A No information
Edwards Syndrome N/A N/A 1 per 5,000 - 6,000 newborns are affected by Trisomy 18, Genetics Home Reference website
Thurston syndrome N/A N/A No information
Orofaciodigital syndrome Thurston type N/A N/A No information
Orofaciodigital syndrome, Gabrielli type N/A N/A No information
Otopalatodigital Syndrome Type I and II N/A N/A No information
Otopalatodigital Syndrome Type I N/A N/A No information
Oto-Palato-Digital Syndrome N/A N/A No information
Oto-Palato-digital syndrome type 1 N/A N/A No information
Oto-palato-digital syndrome, type 2 N/A N/A No information
Oculopalatoskeletal syndrome N/A N/A No information
Bone dysplasia -- corpus callosum agenesis N/A N/A No information
Craniofacial dyssynostosis N/A N/A No information
Hip luxation N/A N/A No information
Fibular aplasia N/A N/A No information
Polyarthritis, systemic N/A N/A No information
Hip subluxation N/A N/A No information
Infantile onset spinocerebellar ataxia N/A N/A No information
Microcephaly nonsyndromal N/A N/A No information
Scoliosis as part of NF N/A N/A No information
Scoliosis with unilateral unsegmented bar N/A N/A No information
Juvenile-onset dystonia N/A N/A No information
Chorea familial benign N/A N/A No information
Bradykinesia N/A N/A No information
Spondylarthritis N/A N/A No information
Spinocerebellar ataxia, X-linked, 4 N/A N/A No information
Spinocerebellar ataxia, Machado-Joseph type IV N/A N/A No information
Spinocerebellar ataxia, Machado-Joseph type III N/A N/A No information
Spinocerebellar ataxia 10 N/A N/A No information
Spinocerebellar ataxia, Machado-Joseph type II N/A N/A No information
Spinocerebellar ataxia, Machado-Joseph type V N/A N/A No information
Spinocerebellar ataxia -- amyotrophy -- deafness N/A N/A No information
Cockayne syndrome N/A N/A estimated less than 1 per 100,000 people are affected by Cockayne syndrome, Genetics Home Reference website
Cockayne syndrome type 1 N/A N/A No information
Cockayne syndrome type 2 N/A N/A No information
Cockayne syndrome type 3 N/A N/A No information
Rothmund-Thomson Syndrome N/A N/A No information
Aniridia -- absent patella N/A N/A No information
Poland Syndrome N/A N/A No information
Myhre Syndrome N/A N/A No information
Facial dysmorphism -- intellectual deficit -- short stature -- hearing loss N/A N/A No information
Marinesco-Sjogren syndrome N/A N/A No information
Chylomicron retention disease with Marinesco-Sjogren syndrome N/A N/A No information
Marinesco-Sjogren-like syndrome (MSLS) N/A N/A No information
Noonan syndrome 3 N/A N/A No information
Noonan-like/multiple giant cell lesion syndrome N/A N/A No information
Noonan-like syndrome N/A N/A No information
Neurofibromatosis-Noonan syndrome N/A N/A No information
Noonan Syndrome N/A N/A estimated 1 per 1,000 - 2,500 people are affected by Noonan syndrome, Genetics Home Reference website
Oculoauriculovertebral (OAV) dysplasia N/A N/A No information
Goldenhar Syndrome N/A N/A No information
Branchio-skeleto-genital syndrome N/A N/A No information
Dystonia-Parkinsonism, Adult-Onset N/A N/A No information
Torsion dystonia, autosomal recessive N/A N/A No information
Microcephaly albinism digital anomalies syndrome N/A N/A No information
Chorioretinopathy dominant form -- microcephaly N/A N/A No information
Proximal spinal muscular atrophy, type 4 N/A N/A No information
Proximal spinal muscular atrophy N/A N/A No information
Arthrogryposis -- spinal muscular atrophy N/A N/A No information
Spinal muscular atrophy -- Dandy-Walker complex -- cataracts N/A N/A No information
SPG N/A N/A No information
Split hand -- split foot N/A N/A No information
Split hand -- split foot -- deafness N/A N/A No information
Proximal spinal muscular atrophy, type 1 N/A N/A No information
Microcephaly -- lymphoedema -- chorioretinopathy N/A N/A No information
Microcephaly -- lymphoedema -- Chorioretinopathy Dysplasia Syndrome N/A N/A No information
MLCRD Syndrome N/A N/A No information
Lymphoedema -- Microcephaly -- Chorioretinopathy Syndrome N/A N/A No information
Lymphoedema -- Microcephaly -- chorioretinopathy N/A N/A No information
Laryngeal web congenital heart disease short stature N/A N/A No information
Hypoglossia -- Hypodactylomelia N/A N/A No information
Hypoglossia -- Hypomelia N/A N/A No information
Hypoglossia -- Hypodactylia N/A N/A No information
Glossopalatine Ankylosis -- Hypoglossia -- Hypodactylomelia N/A N/A No information
Glossopalatine Ankylosis -- Hypoglossia -- Hypomelia N/A N/A No information
Glossopalatine Ankylosis -- Hypoglossia -- Hypodactylia N/A N/A No information
Intraoral Bands -- Hypoglossia -- Hypodactylomelia N/A N/A No information
Intraoral Bands -- Hypoglossia N/A N/A No information
Aglossia-Hypoactylia syndrome N/A N/A No information
Micrognathia with Peromelia N/A N/A No information
Aglossia-Adactylia syndrome N/A N/A No information
Oromandibular and Limb Hypogenesis Syndrome, Type III N/A N/A No information
Oromandibular and Limb Hypogenesis Syndrome, Type II N/A N/A No information
Oromandibular and Limb Hypogenesis Syndrome, Type I N/A N/A No information
Corneal dystrophy -- ichthyosis -- microcephaly -- mental retardation N/A N/A No information
Adult hypophosphatasia N/A N/A No information
Perinatal hypophosphatasia N/A N/A No information
Hypophosphatemic rickets N/A N/A No information
Rett-like syndrome N/A N/A No information
Microcephaly, primary autosomal recessive, 1 N/A N/A No information
Microcephaly, primary autosomal recessive, 2 N/A N/A No information
Microcephaly, primary autosomal recessive, 4 N/A N/A No information
Microcephaly, primary autosomal recessive, 5 N/A N/A No information
Microcephaly, primary autosomal recessive, 6 N/A N/A No information
Congenital contractures N/A N/A No information
Metatarsus adductus N/A N/A No information
Microcephaly with normal intelligence, immunodeficiency N/A N/A No information
Synostoses, tarsal, carpal, and digital N/A N/A No information
Epilepsy with myoclonic-astatic crisis N/A N/A No information
Myokymia with neonatal epilepsy N/A N/A No information
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp N/A N/A No information
Convulsions benign familial neonatal dominant form N/A N/A No information
Myoclonic epilepsy benign, adult, familial N/A N/A No information
Epilepsy with myoclonic absences N/A N/A No information
Epilepsy, generalized -- paroxysmal dyskinesia N/A N/A No information
Generalized epilepsy and paroxysmal dyskinesia N/A N/A No information
Hemiconvulsion-Hemiplegia-Epilepsy syndrome N/A N/A No information
Epilepsy, progressive myoclonic 3 N/A N/A No information
Mediterranean myoclonic epilepsy N/A N/A No information
Baltic myoclonic epilepsy N/A N/A No information
Epilepsy, myoclonic progressive familial N/A N/A No information
Myoclonus with epilepsy with ragged red fibers N/A N/A No information
Juvenile myoclonic epilepsy N/A N/A No information
Infantile epileptic-dyskinetic encephalopathy N/A N/A No information
Myoclonus progressive epilepsy of Unverricht and Lundborg N/A N/A No information
Epilepsy -- microcephaly -- skeletal dysplasia N/A N/A No information
Infantile convulsions and paroxysmal choreoathetosis, familial N/A N/A No information
Convulsions, benign familial infantile, 1 N/A N/A No information
Focal dystonia N/A N/A No information
Muscle Hypertonia N/A N/A No information
Neuronopathy, distal hereditary motor, type IV N/A N/A No information
Dystonia 15, myoclonic N/A N/A No information
Myotonic dystrophy type 3 N/A N/A No information
Congenital myotonic dystrophy N/A N/A 5 per 100 000 people suffer from myotonic dystrophy in the US
Myotonic dystrophy, type 2 N/A N/A No information
Proximal myotonic dystrophy N/A N/A No information
Bone pain, periodic N/A N/A No information
Unusual facies, osteosarcoma and malformation syndrome N/A N/A No information
Dystonia 4, Torsion, Autosomal Dominant N/A N/A No information
Diaphyseal medullary stenosis with malignant fibrous histiocytoma N/A N/A No information
Wilms tumour and radial bilateral aplasia N/A N/A No information
Choreoathetosis-spasticity, episodic N/A N/A No information
Brachydactyly type B N/A N/A No information
Brachydactyly type C N/A N/A No information
Brachydactyly type E N/A N/A No information
Brachydactyly type A1 N/A N/A No information
Brachydactyly type A3 N/A N/A No information
Brachydactyly type A6 N/A N/A No information
Brachydactyly types B and E combined N/A N/A No information
Brachydactyly with hypertension N/A N/A No information
Brachydactyly, type A5, nail dysplasia N/A N/A No information
Brachydactyly preaxial with hallux varus and thumb abduction N/A N/A No information
Brachydactyly, long thumb type N/A N/A No information
Brachydactyly -- scoliosis -- carpal fusion N/A N/A No information
Brachydactyly type A2 N/A N/A No information
Brachydactyly, type a7 N/A N/A No information
Brachydactyly -- absence of distal phalanges N/A N/A No information
Brachydactyly -- tibial hypoplasia N/A N/A No information
Brachydactyly -- arterial hypertension N/A N/A No information
Brachydactyly, type B2 N/A N/A No information
Brachydactyly type D N/A N/A No information
Epiphyseal dysplasia, multiple, 1 N/A N/A No information
Epiphyseal dysplasia, multiple, 2 N/A N/A No information
Epiphyseal dysplasia, multiple, 3 N/A N/A No information
Epiphyseal dysplasia, multiple, 5 N/A N/A No information
Split hand split foot mandibular hypoplasia N/A N/A No information
Arthrogryposis multiplex congenita type 2B N/A N/A No information
Arthrogryposis multiplex congenita -- pulmonary hypoplasia N/A N/A No information
Arthrogryposis multiplex congenita, distal, X-linked N/A N/A No information
Arthrogryposis multiplex congenita neurogenic type N/A N/A No information
Arthrogryposis multiplex congenita, distal type 1 N/A N/A No information
Arthrogryposis multiplex with deafness, inguinal hernias, and early death N/A N/A No information
Juvenile gout N/A N/A No information
Motor neuropathy, peripheral with dysautonomia N/A N/A No information
Hypomyelination neuropathy -- arthrogryposis N/A N/A No information
Multifocal motor neuropathy with conduction block N/A N/A No information
Polyneuropathy -- hand defect N/A N/A No information
Discitis N/A N/A No information
Brachymetatarsus IV N/A N/A No information
Adducted thumbs Dundar type N/A N/A No information
Osteopetrosis with neuroaxonal dysplasia, infantile form N/A N/A No information
Osteopetrosis, autosomal recessive 4 N/A N/A No information
Osteopetrosis, autosomal recessive 2 N/A N/A No information
Osteopetrosis, mild autosomal recessive form N/A N/A No information
Osteopetrosis -- renal tubular acidosis N/A N/A No information
Osteopetrosis autosomal dominant type 2 N/A N/A No information
Osteopetrosis N/A N/A No information
Osteopetrosis with renal tubular acidosis N/A N/A No information
Osteopetrosis lethal N/A N/A No information
Osteopetrosis, intermediate form N/A N/A No information
Lissencephaly type III -- metacarpal bone dysplasia N/A N/A No information
Saethre-Chotzen Syndrome N/A N/A No information
Acrocephalopolydactyly II N/A N/A No information
Carpenter syndrome N/A N/A No information
Acrocephalosyndactyly II N/A N/A No information
Acrocephalosyndactyly N/A N/A No information
Acrocephalopolydactyly N/A N/A No information
Acrocephalopolysyndactyly type III N/A N/A No information
Acrocephalosyndactyly type 3 (ACPS 3) N/A N/A No information
Acrocephalopolysyndactyly, type 2 (ACPS 2) N/A N/A No information
Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects N/A N/A No information
ACPS III N/A N/A No information
Trichorhinophalangeal Syndrome Type II N/A N/A No information
Trichorhinophalangeal Syndrome Type I N/A N/A No information
Trichorhinophalangeal syndrome type 1 N/A N/A No information
Trichorhinophalangeal syndrome type 3 N/A N/A No information
Trichorhinophalangeal Syndrome Type III N/A N/A No information
Trichorhinophalangeal syndrome type 2 N/A N/A No information
Tricho-dento-osseous syndrome type I N/A N/A No information
Tricho-dento-osseous syndrome II N/A N/A No information
Tricho-dento-osseous syndrome N/A N/A No information
Tricho-dento-osseous syndrome type N/A N/A No information
Multiple congenital contractures N/A N/A No information
Heart defects -- limb shortening N/A N/A No information
Triphalangeal thumb, non opposable N/A N/A No information
Pena Shokeir syndrome, type 1 N/A N/A No information
Pena-Shokeir syndrome Type 2 N/A N/A No information
COFS syndrome N/A N/A No information
Cerebro-Oculo-Facio-Skeletal Syndrome N/A N/A No information
Neuropathy, hereditary motor and sensory, LOM type N/A N/A No information
Neuropathy, hereditary motor and sensory, Okinawa type N/A N/A No information
Dejerine-Sottas Syndrome N/A N/A No information
Hypertrophic neuropathy of Dejerine-Sottas N/A N/A No information
Dejerine-Sottas disease N/A N/A No information
Heart-hand syndrome, Spanish type N/A N/A No information
Heart-hand syndrome, Slovenian type N/A N/A No information
Holt-Oram Syndrome N/A N/A estimated 1 per 100,000 people suffer from Holt-Oram disease, Genetics Home Reference website
Wieacker-Wolff Syndrome N/A N/A No information
Beckwith-Wiedemann Syndrome N/A N/A No information
Wiedemann-Beckwith syndrome N/A N/A No information
Insulin resistance, short fifth metacarpals N/A N/A No information
Microcephaly, primary autosomal recessive, 7 N/A N/A No information
Myopathy and diabetes mellitus N/A N/A No information
Arthritis, Gouty N/A N/A No information
Radial ray agenesis N/A N/A No information
Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency N/A N/A No information
Corpus callosum agenesis double urinary collecting system and trigonocephaly N/A N/A No information
Corpus callosum agenesis double urinary collecting N/A N/A No information
Proteus like syndrome mental retardation eye defect N/A N/A No information
Short stature, cranial hyperostosis, hepatomegaly and diabetes N/A N/A No information
Ectodermal dysplasia -- arthrogryposis -- diabetes mellitus N/A N/A No information
Benign paroxysmal torticollis of infancy N/A N/A No information
Atherosclerosis, premature -- deafness -- diabetes mellitus -- photomyoclonus -- nephropathy -- degenerative neurologic disease N/A N/A No information
Spastic paraplegia nephritis deafness N/A N/A No information
Pelvic dysplasia arthrogryposis of lower limbs N/A N/A No information
Radioulnar synostosis mental retardation hypotonia N/A N/A No information
Ichthyosis tapered fingers midline groove up N/A N/A No information
Cartilage Hair Hypoplasia N/A N/A No information
Cleft palate cardiac defect ectrodactyly N/A N/A No information
Cleft palate colobomata radial synostosis deafness N/A N/A No information
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss N/A N/A No information
Primary lateral sclerosis, adult N/A N/A No information
Hereditary carnitine deficiency myopathy N/A N/A No information
Arthropathy, Neurogenic N/A N/A No information
Neuronopathy, distal, autosomal recessive, 3 N/A N/A No information
Episodic kinesigenic dyskinesia 2 N/A N/A No information
Dystonia with cerebellar atrophy N/A N/A No information
Lissencephaly type III -- familial foetal akinesia sequence N/A N/A No information
Seckel syndrome 4 N/A N/A No information
Seckel syndrome 1 N/A N/A No information
Seckel syndrome 2 N/A N/A No information
Seckel syndrome 3 N/A N/A No information
Preaxial polydactyly type III N/A N/A No information
Seckel syndrome N/A N/A No information
Seckel-like syndrome, type Buebel N/A N/A No information
Seckel-like syndrome, Majoor-Krakauer type N/A N/A No information
Acroosteolysis dominant type N/A N/A No information
Hajdu-Cheney Syndrome N/A N/A No information
Gordon Syndrome N/A N/A No information
Rubinstein-Taybi Syndrome N/A N/A estimated 1 per 100,000 - 125,000 newborns suffer from Rubinstein-Taybi syndrome, Genetics Home Reference website
Allan-Herndon-Dudley Syndrome N/A N/A No information
Arthrogryposis, distal, type 2A N/A N/A No information
Freeman-Sheldon Syndrome N/A N/A No information
Whistling face syndrome N/A N/A No information
Arthrogryposis, distal, type 2B N/A N/A No information
Cutis laxa, recessive type 2 N/A N/A No information
Synovitis N/A N/A No information
Cutis laxa -- osteoporosis N/A N/A No information
Cutis Laxa with Bone Dystrophy N/A N/A No information
Epidermolysa bullosa simplex and limb girdle muscular dystrophy N/A N/A No information
Ankle defects short stature N/A N/A No information
Congenital ichthyosis, microcephalus, quadriplegia N/A N/A No information
Osteosclerosis with ichthyosis and premature ovarian failure N/A N/A No information
Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects N/A N/A No information
Hydrocephalus -- costovertebral dysplasia -- Sprengel anomaly N/A N/A No information
Brachycephaly -- deafness -- cataract -- mental retardation N/A N/A No information
Brachycephaly -- deafness -- cataract -- microstomia -- mental retardation N/A N/A No information
Epiphyseal dysplasia dysmorphism camptodactyly N/A N/A No information
Osteosclerosis -- ichthyosis -- premature ovarian failure N/A N/A No information
Arthrogryposis -- hyperkeratosis, lethal form N/A N/A No information
Arthrogryposis Distal N/A N/A No information
Arthrogrypotic hand abnormality and sensorineural hearing loss N/A N/A No information
Arthrogryposis-like disorder N/A N/A No information
Arthrogryposis due to muscular dystrophy N/A N/A No information
Arthrogryposis -- ophthalmoplegia -- retinopathy N/A N/A No information
Arthrogryposis IUGR thoracic dystrophy N/A N/A No information
Arthrogryposis -- epileptic seizures -- migrational brain disorder N/A N/A No information
Arthrogryposis -- renal dysfunction -- cholestasis syndrome N/A N/A No information
Arthrogryposis-like hand anomaly -- sensorineural deafness N/A N/A No information
Dystonia 12 N/A N/A No information
Dystonia musculorum deforms 4 N/A N/A No information
Dystonia 13, torsion N/A N/A No information
Dystonia 14 N/A N/A No information
Dystonia 3, torsion, X-linked N/A N/A No information
Dystonia 7, torsion N/A N/A No information
Dystonia 1, Torsion, Autosomal Dominant N/A N/A No information
Dystonia Musculorum Deformans 1 N/A N/A No information
Radial deficiency tibial hypoplasia N/A N/A No information
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency N/A N/A No information
Campomelic dysplasia N/A N/A No information
Campomelic dwarfism N/A N/A No information
Camptomelic syndrome N/A N/A No information
Camptomelic dysplasia II N/A N/A No information
Campomelic Syndrome N/A N/A No information
Borjeson-Forssman-Lehmann Syndrome N/A N/A No information
Camurati Engelmann disease, type 2 N/A N/A No information
Camurat-Engelmann disease, type 2 N/A N/A No information
Camurati-Engelmann Disease N/A N/A No information
Optic atrophy -- ophthalmoplegia -- ptosis -- deafness -- myopathy N/A N/A No information
Cleft lip palate incisor and finger anomalies N/A N/A No information
Hydrocephaly tall stature joint laxity N/A N/A No information
Hydrocephaly tall stature joint laxity and kyphoscoliosis N/A N/A No information
Microcephaly, mental retardation and tracheoesophageal fistula (MMT) N/A N/A No information
Microcephaly, mental retardation and tracheoesophageal fistula associated with features of Rett Syndrome N/A N/A No information
Ischio-vertebral syndrome N/A N/A No information
Ischiogluteal Bursitis N/A N/A No information
Ischio-spinal dysostosis N/A N/A No information
Ischio-spinal dysostosis with cystic kidney disease N/A N/A No information
Ischio-spinal dysostosis -- rib gaps -- nephroblastomatosis N/A N/A No information
Distal myopathy, Welander type N/A N/A No information
Microcephaly syndactyly brachymesophalangy N/A N/A No information
Dolichocephaly N/A N/A No information
Craniosynostosis -- congenital heart disease -- mental retardation N/A N/A No information
Progressive neurodegeneration -- joint laxity -- cataract N/A N/A No information
Microcephaly developmental delay pancytopenia N/A N/A No information
Ossified Ear cartilages with Mental deficiency, Muscle Wasting and Bony Changes N/A N/A No information
Aconitase deficiency N/A N/A No information
Myopathy with Exercise Intolerance, Swedish type N/A N/A No information
Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase N/A N/A No information
Cardiomyopathy with myopathy due to COX deficiency N/A N/A No information
Osteosclerosis with ichtyhosis and premature ovarian failure N/A N/A No information
Mental retardation -- short stature, Bombay phenotype N/A N/A No information
Spondylometaphyseal dysplasia with dentinogenesis imperfecta N/A N/A No information
Congenital dislocation of the patella N/A N/A No information
Duane-radial ray syndrome N/A N/A only a few cases of Duane-radial ray syndrome have been reported, Genetics Home Reference website
Legg-Calve-Perthes syndrome N/A N/A No information
Carpal deformity -- micrognathia -- microstomia N/A N/A No information
Camptodactyly -- joint contractures and facial skeletal dysplasia N/A N/A No information
Dwarfism -- thin bones -- multiple fractures N/A N/A No information
Brachydactyly -- elbow, wrist dysplasia N/A N/A No information
Craniosynostosis Philadelphia type N/A N/A No information
Ankylosing spondylarthritis N/A N/A No information
Cerebro-facio-thoracic dysplasia N/A N/A No information
Craniosynostosis Fontaine type N/A N/A No information
Lipid storage myopathy N/A N/A No information
Immunodeficiency, microcephaly with normal intelligence N/A N/A No information
Acheiropodia N/A N/A No information
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance N/A N/A No information
Ulna Hemimelia N/A N/A No information
Radial Hemimelia N/A N/A No information
Fibular Hemimelia N/A N/A No information
Hemimelia N/A N/A No information
Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 1 N/A N/A No information
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate N/A N/A No information
Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 3 N/A N/A No information
Sjogren-Larsson-like syndrome N/A N/A No information
Sjogren-Larsson syndrome N/A N/A No information
Dupuytren's contracture N/A N/A No information
Tetanus N/A N/A No information
Congenital SMA with arthrogryposis N/A N/A rare
Oculopharyngeal Muscular Dystrophy N/A N/A No information
Emery-Dreifuss Muscular Dystrophy N/A N/A No information
Atlanto-Axial Fusion N/A N/A No information
Distal myopathy with vocal cord weakness N/A N/A No information
Osteoporosis -- macrocephaly -- mental retardation -- blindness N/A N/A No information
Ectodermal dysplasia -- hypohidrotic -- hypothyroidism -- ciliary dyskinesia N/A N/A No information
Nystagmus, congenital motor, autosomal recessive N/A N/A No information
Prognathism dominant N/A N/A No information
Skeletal dysplasia -- mental retardation N/A N/A No information
Friedreich ataxia -- congenital glaucoma N/A N/A No information
Asymmetric short stature syndrome N/A N/A No information
Ataxia with fasciculations N/A N/A No information
Cartilaginous -- arthritic -- ophthalmic -- deafness syndrome N/A N/A No information
Bowel-associated dermatosis-arthritis syndrome N/A N/A No information
Bowler's finger syndrome N/A N/A No information
Dialysis osteomalacia syndrome N/A N/A No information
Cardiomyopathy with myopathy due to COX deficency N/A N/A No information
Visceral myopathy familial external ophthalmoplegia N/A N/A No information
Myopathy, Mitochonrdrial Progressive, with Congenital Cataract, Hearing Loss and Developmental Delay N/A N/A No information
Myopathy, Myofibrillar, BAG3-Related N/A N/A No information
Myopathy, Congenital, Compton-North N/A N/A No information
Myopathy due to calsequestrin and SERCA1 protein overload N/A N/A No information
Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant N/A N/A No information
Myopathy, Myosin storage N/A N/A No information
Myopathy, hyaline body, autosomal dominant N/A N/A No information
Severe dilated cardiomyopathy with or without myopathy N/A N/A No information
Hereditary myopathy with intranuclear filamentous N/A N/A No information
Vacuolar myopathy N/A N/A No information
Distal myopathy with posterior leg and anterior upper limb involvement N/A N/A No information
Hereditary inclusion body myopathy -- joint contractures -- ophthalmoplegia N/A N/A No information
Inclusion body myopathy, type 3 N/A N/A No information
Inclusion body myopathy, type 3, autosomal dominant N/A N/A No information
Inclusion body myopathy, type 3 (IBM3) N/A N/A No information
Myopathy, Congenital, Batten Turner Type N/A N/A No information
Scapuloperoneal amyotrophy N/A N/A No information
Inclusion body myopathy, autosomal dominant N/A N/A No information
Scapuloperoneal myopathy, X-linked dominant N/A N/A No information
Amyotrophy, neurogenic scapuloperoneal, New England type N/A N/A No information
Scapuloperoneal syndrome, neurogenic, Kaeser type N/A N/A No information
Scapuloperoneal myopathy, MYH7-related N/A N/A No information
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia N/A N/A No information
Myopathy, early-onset with fatal cardiomyopathy N/A N/A No information
Myopathy, X-linked with postural muscle atrophy N/A N/A No information
Laing distal myopathy N/A N/A No information
Desmin-related myopathy with Mallory body-like inclusions N/A N/A No information
Cytoplasmic body myopathy N/A N/A No information
Amyopathic dermatomyositis N/A N/A No information
Hypertrophic branchial myopathy N/A N/A No information
Myopathy -- ophthalmoplegia -- hypoacousia -- areflexia N/A N/A No information
Minicore myopathy, antenatal onset, with arthrogryposis N/A N/A No information
Myopathy, congenital nonprogressive with Moebius and Robin sequences N/A N/A No information
Myopathy mitochondrial -- cataract N/A N/A No information
Myopathy congenital multicore with external ophthalmoplegia N/A N/A No information
Myopathy with lactic acidosis and sideroblastic anemia N/A N/A No information
Native American myopathy N/A N/A No information
Minicore myopathy, moderate, with hand involvement N/A N/A No information
Inclusion body myopathy 3, autosomal dominant N/A N/A No information
Mitochondrial encephalomyopathy -- aminoacidopathy N/A N/A No information
Mitochondrial myopathy -- lactic acidosis N/A N/A No information
Desmin related myopathy N/A N/A No information
Distal myopathy, Markesbery-Griggs type N/A N/A No information
Hereditary carnitine deficiency syndrome, myopathic N/A N/A No information
Myopathy, X-linked, with excessive autophagy N/A N/A No information
Welander distal myopathy, Swedish type N/A N/A No information
Nemaline myopathy N/A N/A No information
Carnitine palmitoyl transferase II deficiency, myopathic N/A N/A No information
Congenital myopathy N/A N/A estimated 1 per 10,000 people from Scandinavia suffer from myotonia congenita worldwide, Genetics Home Reference website
Myopathy, myotubular N/A N/A No information
Myopathy, congenital fiber-type disproportion N/A N/A No information
Scapuloperoneal myopathy N/A N/A No information
Centronuclear myopathy, congenital N/A N/A No information
Diffuse idiopathic skeletal hyperostosis N/A N/A No information
Myopathy with lysis of myofibrils N/A N/A No information
Spheroid body myopathy N/A N/A No information
Nemalin myopathy, late onset type N/A N/A No information
Nemaline myopathy, early onset type N/A N/A No information
Bethlem myopathy N/A N/A No information
Myopathy tubular aggregates N/A N/A No information
Miyoshi myopathy N/A N/A No information
Distal myopathy N/A N/A No information
Inclusion body myopathy, 2 autosomal recessive N/A N/A No information
Landouzy-Dejerine muscular dystrophy N/A N/A No information
Batten-Turner muscular dystrophy N/A N/A No information
Fukuyama type muscular dystrophy N/A N/A No information
Emery-Dreifuss muscular dystrophy, X-linked N/A N/A estimated 1 per 100,000 people suffer from X-linked Emery-Dreifuss muscular dystrophy, Genetics Home Reference website
Muscular dystrophy, proximal, autosomal dominant, late onset type N/A N/A No information
Emery-Dreifuss muscular dystrophy, dominant type N/A N/A No information
Facioscapulohumeral muscular dystrophy 1a N/A N/A No information
Muscular dystrophy congenital, merosin negative N/A N/A No information
Muscular dystrophy, congenital, infantile with cataract -- hypogonadism N/A N/A No information
Muscular dystrophy, congenital, merosin-positive N/A N/A No information
Muscular dystrophy -- white matter spongiosis N/A N/A No information
Scleroatonic muscular dystrophy N/A N/A No information
Muscular Dystrophy -- Late Onset N/A N/A No information
Congenital muscular dystrophy syringomyelia N/A N/A No information
Muscular dystrophy, congenital, type 1C N/A N/A No information
Muscular dystrophy -- congenital infantile cataract -- hypogonadism N/A N/A No information
Facioscapulohumeral Muscular Dystrophy -- Sensorineural Hearing Loss N/A N/A No information
Scapuloperoneal Syndrome N/A N/A No information
Muscular Dystrophy, Emery Dreifuss N/A N/A No information
Muscular dystrophy congenital, with integrin deficiency N/A N/A No information
Fryns Syndrome N/A N/A No information
Diaphragmatic hernia -- upper limb defects N/A N/A No information
Diaphragmatic defect -- limb deficiency -- skull defect N/A N/A No information
Asternia with Cardiac, Diaphragmatic, and Abdominal defects N/A N/A No information
Diaphragmatic agenesis -- radial aplasia -- omphalocele N/A N/A No information
Primary orthostatic tremor N/A N/A No information
Humeroradioulnar synostosis N/A N/A No information
Meningoencephalocele -- arthrogryposis -- hypoplastic thumb N/A N/A No information
Hyperparathyroidism, neonatal severe primary N/A N/A No information
Neuroaxonal dystrophy -- renal tubular acidosis N/A N/A No information
Oncogenic osteomalacia N/A N/A No information
Wilms tumor and radial bilateral aplasia N/A N/A No information
Ceroid storage disease N/A N/A No information
Decreased ankle and knee reflexes N/A N/A No information
Nephronophthisis familial, adult -- spastic quadriparesis N/A N/A No information
Tremor hereditary essential, 1 N/A N/A No information
Tremor hereditary essential, 2 N/A N/A No information
Tremor, hereditary essential, and idiopathic normal pressure hydrocpehalus N/A N/A No information
Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus N/A N/A No information
Duplication of leg mirror foot N/A N/A No information
Tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities N/A N/A No information
Microdontia -- hypodontia -- short stature N/A N/A No information
Microcephaly -- mental retardation -- spasticity -- epilepsy N/A N/A No information
Multiple joint dislocations -- metaphyseal dysplasia N/A N/A No information
Smith-Fineman-Myers syndrome 1 N/A N/A No information
Smith-Fineman-Myers syndrome 2 N/A N/A No information
Multicore disease N/A N/A No information
Mirror hand syndrome N/A N/A No information
Leg Duplication -- Mirror Foot N/A N/A No information
Serpentine fibula -- polycystic kidney syndrome N/A N/A No information
Short tarsus -- absence of lower eyelashes N/A N/A No information
Limb dystonia N/A N/A No information
Congenital heart disease -- radio ulnar synostosis -- mental retardation N/A N/A No information
Arthropathy, progressive pseudorheumatoid, of childhood N/A N/A No information
Meinecke syndrome N/A N/A No information
Franek-Bocker-Kahlen syndrome N/A N/A No information
Microcephaly brain defect spasticity hypernatremia N/A N/A No information
Torsion dystonia with onset in infancy N/A N/A No information
Corpus callosum, agenesis of, blepharophimosis Robin type N/A N/A No information
Craniofacial dysostosis -- arthrogryposis -- progeroid appearence N/A N/A No information
Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies N/A N/A No information
Angel shaped phalangoepiphyseal dysplasia N/A N/A No information
Mandibuloacral dysplasia with type A lipodystrophy N/A N/A No information
Spasticity -- multiple exostoses N/A N/A No information
Guizar-Vasquez-Sanchez-Manzano syndrome N/A N/A No information
Mandibuloacral dysplasia with type B lipodystrophy N/A N/A No information
Benign congenital hypotonia N/A N/A No information
Paramyotonia congenita N/A N/A less than 1 per 100,000 people are affected by paramyotonia congenital, Genetics Home Reference website
Childhood hypophosphatasia N/A N/A No information
Arthritis-related enthesitis N/A N/A No information
Crossed polydactyly N/A N/A No information
Hirschsprung disease -- deafness -- polydactyly N/A N/A No information
Hirschsprung disease type D brachydactyly N/A N/A No information
Hirschsprung disease -- polydactyly -- heart disease N/A N/A No information
Hirschsprung -- microcephaly -- cleft palate N/A N/A No information
Cornelia de Lange Syndrome N/A N/A estimated 1 per 10,000 - 30,000 newborns suffer from Cornelia de Lange syndrome, Genetics Home Reference website
Cornelia de Lange syndrome 2 N/A N/A No information
Cornelia de Lange syndrome 1 N/A N/A No information
Crouzon Syndrome N/A N/A 16 million newborns suffer from Crouzon syndrome, Genetics Home Reference website
Craniofacial dysostosis type 1 N/A N/A No information
Crouzonodermoskeletal syndrome N/A N/A 1 per 1 million people are affected by Crouzonodermoskeletal syndrome, Genetics Home Reference website
Zellweger Syndrome N/A N/A rare
Femoral Hypoplasia-Unusual Facies Syndrome N/A N/A No information
Prader-Willi syndrome N/A N/A estimated 1 per 10,000 - 25,000 people suffer from Prader-Willi syndrome, Genetics Home Reference website
Vildervanck syndrome 4 N/A N/A No information
Wildervanck syndrome N/A N/A No information
Miller Syndrome N/A N/A No information
Genee-Wiedemann syndrome N/A N/A No information
Roussy-Levy hereditary areflexic dystasia N/A N/A No information
Craniosynostosis contractures cleft N/A N/A No information
Avascular necrosis of femoral head, familial form N/A N/A No information
Neuropathy, distal hereditary motor, Jerash type N/A N/A No information
Preaxial polydactyly, type 1 N/A N/A No information
Asphyxiating Thoracic Dystrophy 3 N/A N/A No information
Asphyxiating Thoracic Dystrophy 2 N/A N/A No information
Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/Generalized Overgrowth. N/A N/A No information
Asphyxiating Thoracic Dystrophy N/A N/A No information
Thoracic dysplasia -- hydrocephalus syndrome N/A N/A No information
Microcephaly -- mental retardation -- retinopathy N/A N/A No information
Micromelic bone dysplasia with cloverleaf skull N/A N/A No information
Cloverleaf skull micromelia thoracic dysplasia N/A N/A No information
Brachydactyly nystagmus cerebellar ataxia N/A N/A No information
Growth deficiency brachydactyly unusual facies N/A N/A No information
Polysyndactyly orofacial anomalies N/A N/A No information
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly N/A N/A No information
Hyperostosis corticalis generalisata N/A N/A No information
Long thumb, brachydactyly syndrome N/A N/A No information
Osteopathia striata pigmentary dermopathy white forelock N/A N/A No information
Hyperparathyroidism, familial, primary N/A N/A No information
Polydactyly postaxial dental and vertebral N/A N/A No information
Craniofrontonasal syndrome Teebi type N/A N/A No information
Microcephaly immunodeficiency lymphoreticuloma N/A N/A No information
Microcephaly, hiatal hernia and nephrotic syndrome N/A N/A No information
Gigantism partial -- nevi -- hemihypertrophy -- macrocephaly N/A N/A No information
Microphthalmia -- camptodactyly -- mental retardation N/A N/A No information
Ptosis -- coloboma -- trigonocephaly N/A N/A No information
Pericardium absent -- mental retardation -- short stature N/A N/A No information
Ossification of the posterior longitudinal ligament of the spine N/A N/A No information
Symphalangism -- brachydactyly -- craniosynostosis N/A N/A No information
Rippling muscle disease N/A N/A No information
Spastic tetraplegic -- cerebral palsy N/A N/A No information
Microcephaly with chorioretinopathy, autosomal dominant form N/A N/A No information
Precocious myoclonic encephalopathy N/A N/A No information
Onychodystrophy and anonychia with type B brachydactyly and ectrodactyly N/A N/A No information
Hypoplastic right heart -- microcephaly N/A N/A No information
Microcephaly -- pontocerebellar hypoplasia -- dyskinesia N/A N/A No information
Motor neuropathy N/A N/A No information
Rippling muscle disease, 1 N/A N/A No information
Rippling muscle disease, 2 N/A N/A No information
Transverse limb deficiency -- hemangioma N/A N/A No information
Cerebral palsy, spastic, diplegic N/A N/A No information
Carpotarsal osteochondromatosis N/A N/A No information
Chorea, remitting with nystagmus and cataracts N/A N/A No information
Juvenile osteoporosis N/A N/A No information
Familial periodic paralysis N/A N/A No information
Infantile recurrent chronic multifocal osteomyolitis N/A N/A No information
Intervertebral disc disease N/A N/A No information
Cri-du-chat syndrome N/A N/A 1 per 200,000-500,000 newborns are affected by Cri-du-chat syndrome, Genetics Home Reference website
Achondroplasia N/A N/A No information
Fragile-X Syndrome N/A N/A approximately 1 per 8,000 females suffer from fragile X syndrome, Genetics Home Reference website
Huntington's Disease N/A N/A estimated 3-7 per 100,000 people of European ancestry suffer from Huntington disease, Genetics Home Reference website
Machado-Joseph Disease N/A N/A rare
Dentatorubral Pallidoluysian Atrophy N/A N/A No information
MELAS N/A N/A No information
Rett's syndrome N/A N/A estimated 1 per 10,000 - 22,000 females suffer from Rett syndrome, Genetics Home Reference website
Lafora body disease N/A N/A No information
Brachial Plexus Injury N/A N/A No information
Brown-Sequard Syndrome N/A N/A rare
Erb's Palsy N/A N/A No information
Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response N/A N/A No information
Congenital pseudoarthrosis N/A N/A No information
Eosinophilic synovitis N/A N/A No information
Cerebellar ataxia, infantile with progressive external ophthalmoplegia N/A N/A No information
Edward Syndrome N/A N/A No information
Carnitine palmitoyl transferase deficiency N/A N/A No information
Carnitine palmitoyl transferase 2 deficiency N/A N/A No information
Spastic paraplegia glaucoma precocious puberty N/A N/A No information
Leukoencephalopathy, arthritis, colitis and hypogammaglobulinemia N/A N/A No information
Fibular dimelia -- diplopodia N/A N/A No information
Generalized lipodystrophy with mental retardation, deafness, short stature and slender bones N/A N/A No information
Hereditary carnitine deficiency N/A N/A No information
Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema N/A N/A No information
Microcephaly N/A N/A rare
Pompe disease N/A N/A 1 per 40,000 people suffer from Pompe disease, Genetics Home Reference website
Torsion dystonia N/A N/A No information
Juvenile primary lateral sclerosis N/A N/A only a few cases of juvenile primary lateral sclerosis have been reported, Genetics Home Reference website
Muxcle Phosphoglycerate mutase deficiency N/A N/A No information
Chondrodysplasia punctata with steroid sulfatase deficiency N/A N/A No information
Traumatic amputation N/A N/A No information
Fetal akinesia syndrome, X-linked N/A N/A No information
Muscle phosphoglycerate kinase deficiency N/A N/A No information
Carnitine palmitoyl transferase 1 deficiency N/A N/A less than 50 people suffer from Jervell and Lange-Nielsen syndrome worldwide, Genetics Home Reference website
Hereditary carnitine deficiency syndrome, systemic N/A N/A No information
Carnitine palmitoyl transferase II deficiency, lethal neonatal form N/A N/A the lethal neonatal form of carnitine palitoyl transferase II deficiency has been reported in 10 families, Genetics Home Reference website
Lactate dehydrogenase deficiency N/A N/A No information
Hereditary carnitine deficiency syndrome N/A N/A No information
Carnitine palmitoyl transferase II deficiency, infantile hepatocardiomuscular type N/A N/A the infantile hepatocardiomusucular form of carnitine palmitoyl transferase II deficiency has been reported in 10 families, Genetics Home Reference website
Carnitine transporter deficiency N/A N/A 1 per 40,000 newborns suffer from primary carnitine deficiency in Japan, Genetics Home Reference website
Phosphoglycerate kinase 1 deficiency N/A N/A No information
Lactate dehydrogenase deficiency type A N/A N/A No information
Lactate dehydrogenase deficiency type C N/A N/A No information
Agammaglobulinemia, microcephaly, and severe dermatitis N/A N/A No information
Intrathoracic kidney -- vertebral fusion N/A N/A No information
Adducted thumb syndrome recessive form N/A N/A No information
Thick skull syndrome N/A N/A No information
Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia N/A N/A No information
Agnathia-holoprosencephaly-situs inversus N/A N/A No information
Agnathia-microstomia-synotia N/A N/A No information
Bennett fracture N/A N/A No information
Recurrent infections -- short stature -- hypopigmentation -- coarse face N/A N/A No information
Hypophosphatemia, Familial N/A N/A No information
Hypophosphatemia N/A N/A No information
Biemond syndrome type 1 N/A N/A No information
Biemond Syndrome N/A N/A No information
Biemond syndrome type 2 N/A N/A No information
Biemond syndrome type 3 N/A N/A No information
Chikungunya fever-like intense Muscle aches N/A N/A No information
Familial Mediterranean fever N/A N/A estimated 1 per 250 - 1,000 people of Armenian, Arabic, Turkish, Jewish and Mediterranean ancestry suffer from Familial Mediterranean Fever, Genetics Home Reverence website
Sarcoglycanopathy N/A N/A No information
Pediatric granulomatous arthritis N/A N/A No information
Granulomatous arthritis of childhood N/A N/A No information
Subacromial bursitis N/A N/A No information
Trochanteric bursitis N/A N/A No information
Bicipital tendinosis N/A N/A No information
Bicipital tendonitis N/A N/A No information
Bicipital syndrome N/A N/A No information
Infantile multisystem inflammatory disease N/A N/A No information
Alpha-sarcoglycanopathy N/A N/A No information
FG syndrome 1 N/A N/A No information
FG syndrome 2 N/A N/A No information
FG syndrome 3 N/A N/A No information
FG syndrome 4 N/A N/A No information
FG syndrome 5 N/A N/A No information
Vitamin D resistant rickets N/A N/A No information
Tumoral calcinosis N/A N/A No information
Cerebellar atrophy with progressive microcephaly N/A N/A No information
Leiomyoma N/A N/A No information
Leimyoma N/A N/A No information
Pierre-Robin syndrome with fetal chondrodysplasia N/A N/A only a few cases of Weissenbacher-Zweymuller syndrome have been reported worldwide, Genetics Home Reference website
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies N/A N/A No information
X-linked mental retardation craniofacial abnormal microcephaly club N/A N/A No information
Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis N/A N/A No information
Calvarial hyperostosis N/A N/A No information
Sixth nerve palsy, benign N/A N/A No information
Benign essential tremor syndrome N/A N/A No information
Dyskinesia, paroxysmal N/A N/A No information
Delta-sarcoglycanopathy N/A N/A No information
Odontoma -- dysphagia syndrome N/A N/A No information
Hyperostosis-hyperphosphatemia syndrome N/A N/A No information
Aseptic osteitis (generic term) N/A N/A No information
Neuroacanthocytosis N/A N/A No information
Multicentric reticulohistiocytosis N/A N/A No information
Methylmalonic aciduria -- microcephaly -- cataract N/A N/A No information
Hypotonia-cystinuria syndrome N/A N/A No information
Acromegaly due to growth hormone-secreting pituitary adenoma N/A N/A No information
Cerebellar ataxia -- areflexia -- pes cavus -- optic atrophy -- sensorineural hearing loss N/A N/A No information
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss N/A N/A No information
Intrauterine growth retardation -- metaphyseal dysplasia -- adrenal hypoplasia congenita -- genital anomalies N/A N/A No information
Narcolepsy with cataplexy N/A N/A No information
Van Bogaert-Hozay syndrome N/A N/A No information
Arthralgia -- purpura -- weakness syndrome N/A N/A No information
Epiphyseal dysplasia, multiple N/A N/A No information
Multiple epiphyseal dysplasia N/A N/A No information
Epiphyseal dysplasia, multiple, 4 N/A N/A No information
Spondyloepiphyseal dysplasia tarda, autosomal dominant N/A N/A No information
Spondyloepiphyseal dysplasia tarda progressive arthropathy N/A N/A No information
Spondyloepiphyseal dysplasia N/A N/A No information
Localized epiphyseal dysplasia N/A N/A No information
Spondyloepiphyseal dysplasia -- nephrotic syndrome N/A N/A No information
Spondyloepiphyseal dysplasia tarda, Toledo type N/A N/A No information
Spondyloepiphyseal dysplasia -- nephritic syndrome N/A N/A No information
Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive N/A N/A No information
Oto-spondylo-megaepiphyseal dysplasia, homozygous N/A N/A No information
Spondyloepiphyseal dysplasia tarda N/A N/A No information
Spondyloepiphyseal dysplasia, congenita N/A N/A No information
Metaphyseal dysplasia Pyle type N/A N/A No information
Otospondylomegaepiphyseal dysplasia N/A N/A only a few families have been reported with otospondylomegaepiphyseal dysplasia, Genetics Home Reference website
Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance N/A N/A No information
Spondyloepiphyseal dysplasia -- brachydactyly and distinctive speech N/A N/A No information
Angiopathy, hereditary, with nephropathy, aneurysms and muscle cramps N/A N/A No information
Nephronophtisis familial, adult form -- spastic quadriparesia N/A N/A No information
Renal dysplasia -- limb defects syndrome N/A N/A No information
Renal rickets N/A N/A No information
SIBIDS syndrome N/A N/A No information
Chondrocalcinosis 1 N/A N/A No information
Chondrocalcinosis 2 N/A N/A No information
Developmental malformations -- deafness -- dystonia N/A N/A No information
Chondrodysplasia, type Nance-Sweeney N/A N/A No information
OSMED, Homozygous N/A N/A No information
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 N/A N/A No information
Genochondromatosis II N/A N/A No information
Genochondromatosis N/A N/A No information
Myodysplasia N/A N/A No information
Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis N/A N/A No information
Unicameral bone cyst N/A N/A No information
Richieri-Costa Pereira syndrome N/A N/A No information
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis N/A N/A No information
Faciocardiomelic Syndrome N/A N/A No information
Kahrizi Syndrome N/A N/A No information
Endocrine-Cerebroosteodysplasia N/A N/A No information
Spondyloepimetaphyseal Dysplasia, Aggrecan Type N/A N/A No information
Cousin Walbrau Cegarra Syndrome N/A N/A No information
Jussieu syndrome N/A N/A No information
East Syndrome N/A N/A No information
Megarbane-Jalkh Syndrome N/A N/A No information
Oromandibular and Limb Hypogenesis Syndrome, Type V N/A N/A No information
Juvenile Paget's Disease N/A N/A No information
Oppenheim's dystonia N/A N/A No information
Microcephaly-Faciocardioskeletal syndrome N/A N/A No information
Giacheti Syndrome N/A N/A No information
Zechi-Ceide Syndrome N/A N/A No information
Disseminated Sclerosis with Narcolepsy N/A N/A No information
Spondylodysplasia and Premature Pubarche N/A N/A No information
Spondyloepimetaphyseal Dysplasia, Pakistani Type N/A N/A No information
Hypertrophy and Asymmetry of the Facial Muscles N/A N/A No information
Minicore disease N/A N/A No information
Split-hand deformity N/A N/A No information
Split Hand/Split Foot Malformation N/A N/A No information
Motor and cognitive disorder due to sepiapterin reductase deficiency N/A N/A No information
Marfanoid syndrome, da Silva type N/A N/A No information
Primrose Syndrome N/A N/A No information
NOMID syndrome N/A N/A No information
Gloomy syndrome N/A N/A No information
Plasmalogenes synthesis deficiency isolated N/A N/A No information
Chondrodysplasia -- disorder of sex development N/A N/A No information
Piepkorn karp hickoc syndrome N/A N/A No information
Mixed sclerosing bone dystrophy N/A N/A No information
Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys N/A N/A No information
Blepharophimosis with ptosis, syndactyly, and short stature N/A N/A No information
Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals N/A N/A No information
Dwarfism lethal type advanced bone age N/A N/A No information
Hydrocephalus -- Skeletal Anomalies -- Mental Disturbance N/A N/A No information
Hydrocephalus skeletal anomalies N/A N/A No information
Barrow-Fitzsimmons Syndrome N/A N/A No information
Thumb deformity N/A N/A No information
Short stature deafness neutrophil dysfunction dysmorphism N/A N/A No information
Myasthenia, familial N/A N/A No information
Overgrowth radial ray defect arthrogryposis N/A N/A No information
Esophageal Atresia, Coloboma, Clubfoot N/A N/A No information
Familial Granulomatosis, Blau type N/A N/A No information
Familial, Systemic, Juvenile Granulomatosis N/A N/A No information
Mastroiacovo de rosa satta syndrome N/A N/A No information
Lop ears, Micrognathia and Conductive Hearing Loss N/A N/A No information
Idiopathic dystonia DYT1 N/A N/A No information
Split-Hand/Foot Malformation with Long Bone Deficiency 1 N/A N/A No information
Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality N/A N/A No information
Talonavicular coalition N/A N/A No information
Metaphyseal undermodeling, spondylar dysplasia, and overgrowth N/A N/A No information
Craniosynostosis cleft lip palate arthrogryposis N/A N/A No information
Microcephaly -- facial clefting -- preaxial polydactyly N/A N/A No information
OI, Type I N/A N/A No information
Kirner Deformity N/A N/A No information
Epimetaphyseal dysplasia cataract N/A N/A No information
Anterior horn disease N/A N/A No information
PCBD N/A N/A No information
Dyssegmental dysplasia N/A N/A No information
Autosomal Recessive Tetra-Amelia N/A N/A No information
Congenital Gigantism with Skeletal Dysplasia N/A N/A No information
Tracheoesophageal fistula symphalangism N/A N/A No information
Basal cell nevus anodontia abnormal bone mineralization N/A N/A No information
Ischio-vertebral dysplasia N/A N/A No information
Collins-Dennis-Clarke-Pope Syndrome N/A N/A No information
Corpus callosum dysgenesis cleft spasm N/A N/A No information
Cataract skeletal anomalies N/A N/A No information
Gigantism advanced bone age hoarse cry N/A N/A No information
Congenital myasthenic syndromes N/A N/A No information
Short stature mental retardation eye defects N/A N/A No information
Multiple vertebral anomalies unusual facies N/A N/A No information
Scheuermann juvenile Kyphosis, familial N/A N/A No information
Chondroma N/A N/A No information
Lawrence-Seuo syndrome N/A N/A No information
Multiminicore disease (MmD) N/A N/A No information
Beradinelli-Seip congenital lipodystrophy N/A N/A No information
Beare-Stevenson cutis gyrate syndrome N/A N/A No information
Glass-Chapman-Hockley syndrome N/A N/A No information
Glass chapman hockley syndrome de N/A N/A No information
Diaphyseal medullary stenosis with malignant fibrous histocytoma N/A N/A No information
Mirror polydactyly -- vertebral segmentation -- limbs defects N/A N/A No information
Ataxia, episodic -- vertigo -- tinnitus -- myokymia N/A N/A No information
$CRMO, juvenile$ N/A N/A No information
Ossification anomalies -- psychomotor development delay N/A N/A No information
Scapuloperoneal syndrome, neurogenic type N/A N/A No information
Osteolysis hereditary multicentric N/A N/A No information
Torticollis, keloids, cryptorchidism, renal dysplasia N/A N/A No information
Macrodactyly of the hand N/A N/A No information
Axial osteomalacia N/A N/A No information
Absent patella N/A N/A No information
Chondrodystrophia punctata, autosomal dominant N/A N/A No information
Paraplegia -- brachydactyly -- cone-shaped epiphysis N/A N/A No information
Microcephaly, primary autosomal recessive N/A N/A No information
Negative rheumatoid factor polyarthritis N/A N/A No information
Hypoplasia of the tibia with polydactyly N/A N/A No information
Trigonocephaly -- ptosis -- mental retardation N/A N/A No information
Dystrophia myotonica 1 N/A N/A No information
Segmental vertebral anomalies N/A N/A No information
Short stature, Brussels type N/A N/A No information
Neuropathy, congenital, with arthrogryposis multiplex N/A N/A No information
Short stature and delayed dental eruption N/A N/A No information
Pectus excavatum macrocephaly dysplastic nails N/A N/A No information
Robinow Syndrome N/A N/A No information
Robinow syndrome, recessive form N/A N/A No information
Robinow syndrome, autosomal recessive N/A N/A No information
Robinow-Unger syndrome N/A N/A No information
Alport Syndrome N/A N/A 1 per 50,000 newborns suffer from Alport syndrome, Genetics Home Reference website
Amelia, autosomal recessive N/A N/A No information
Aortic dilatation- joint hypermobility- arterial tortuosity N/A N/A No information
Anonychia onychodystrophy brachydactyly type b N/A N/A No information
Craniosynostosis autosomal dominant N/A N/A No information
Craniostenosis with congenital heart disease mental retardation N/A N/A No information
Polydactyly postaxial N/A N/A No information
Polydactyly, postaxial -- dental and vertebral anomalies N/A N/A No information
Polydactyly alopecia seborrheic dermatitis N/A N/A No information
Polydactyly preaxial type 1 N/A N/A No information
Polydactyly, preaxial IV N/A N/A No information
Achalasia microcephaly N/A N/A No information
Polydactyly cleft lip palate psychomotor retardation N/A N/A No information
Syndactyly -- preaxial polydactyly -- sternal deformity N/A N/A No information
Brain malformation -- congenital heart disease -- postaxial polydactyly N/A N/A No information
Hypopituitarism postaxial polydactyly N/A N/A No information
Short rib-polydactyly syndrome, Majewski type N/A N/A No information
Short rib-polydactyly syndrome, Saldino-Noonan type N/A N/A No information
Ulnar hypoplasia lobster claw deformity of feet N/A N/A No information
Short rib -- polydactyly syndrome N/A N/A No information
Ectodermal dysplasia -- alopecia -- preaxial polydactyly N/A N/A No information
Scalp defects -- postaxial polydactyly N/A N/A No information
Mirror polydactyly -- segmentation and limbs defects N/A N/A No information
Syndactyly -- polydactyly -- ear lobe syndrome N/A N/A No information
Crossed polydactyly type 1 N/A N/A No information
Anonychia -- ectrodactyly N/A N/A No information
Thumb absence -- hypoplastic halluces N/A N/A No information
Tibia absent -- polydactyly -- arachnoid cyst N/A N/A No information
Ectrodactyly -- polydactyly N/A N/A No information
Cortical blindness -- mental retardation -- polydactyly N/A N/A No information
Crossed polysyndactyly N/A N/A No information
Rigid mask-like face -- deafness -- polydactyly N/A N/A No information
Pierre Robin syndrome skeletal dysplasia polydactyly N/A N/A No information
Trigonomacrocephaly -- tibial defect -- polydactyly N/A N/A No information
Hypothyroidism postaxial polydactyly mental retardation N/A N/A No information
Cleft palate -- heart disease -- polydactyly -- absent tibia N/A N/A No information
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia N/A N/A No information
Megalencephaly -- polymicrogyria -- post-axial polydactyly -- hydrocephalus N/A N/A No information
Mullerian derivatives -- lymphangiectasia -- polydactyly N/A N/A No information
Urophathy distal obstructive polydactyly N/A N/A No information
Phocomelia ectrodactyly deafness sinus arrhythmia N/A N/A No information
Polysyndactyly overgrowth syndrome N/A N/A No information
Phocomelia ectrodactyly ear malformation deafness sinus arrhythmia N/A N/A No information
Cephalopolysyndactyly N/A N/A No information
Limb deficiencies distal micrognathia N/A N/A No information
Greig Cephalopolysyndactyly Syndrome N/A N/A No information
Short ribs -- craniosynostosis -- polysyndactyly N/A N/A No information
Triphalangeal thumb -- polysyndactyly syndrome N/A N/A No information
Fibula aplasia complex -- brachydactyly N/A N/A No information
Polysyndactyly -- cardiac malformation N/A N/A No information
Craniofacial and skeletal defects N/A N/A No information
Heart defect, tongue hamartoma and polysyndactyly N/A N/A No information
Polysyndactyly type Haas N/A N/A No information
Polysyndactyly -- trigonocephaly -- agenesis of corpus callosum N/A N/A No information
Corpus callosum agenesis -- polysyndactyly N/A N/A No information
Phocomelia -- thrombocytopenia -- encephalocele -- urogenital malformation N/A N/A No information
Roberts-SC Phocomelia N/A N/A No information
Phocomelia syndrome N/A N/A No information
Ectrodactyly N/A N/A No information
Frontonasal dysplasia -- phocomelic upper limbs N/A N/A No information
Phocomelia -- contractures -- absent thumb N/A N/A No information
Dentin dysplasia -- sclerotic bones N/A N/A No information
Ectrodactyly, recessive form N/A N/A No information
Ectrodactyly cleft palate syndrome N/A N/A No information
Tibial aplasia ectrodactyly N/A N/A No information
Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate N/A N/A No information
Ectrodactyly dominant form N/A N/A No information
Femur bifid with monodactylous ectrodactyly N/A N/A No information
Oculo-cerebro-acral, (Roberts-like)-ectrodactyly N/A N/A No information
Cleft lip -- palate -- ectrodactyly N/A N/A No information
Cleft lip -- palate -- abnormal thumbs -- microcephaly N/A N/A No information
Craniosynostosis -- fibular aplasia N/A N/A No information
Congenital microgastria limb reduction defect N/A N/A No information
Splenogonadal fusion, limb defects, micrognathia N/A N/A No information
Acro-pectoro-renal field defect N/A N/A No information
Microsomia -- hemifacial -- radial defects N/A N/A No information
Radial defect -- Robin sequence N/A N/A No information
Spastic paraplegia with precocious puberty N/A N/A No information
Limb reduction defect N/A N/A No information
Limb transversal defect -- cardiac anomaly N/A N/A No information
Eye defects -- arachnodactyly -- cardiopathy N/A N/A No information
Craniosynostosis -- alopecia -- brain defect N/A N/A No information
Lung herniation -- congenital defect of sternum N/A N/A No information
Short stature -- pituitary and cerebellar defects -- small sella turcica N/A N/A No information
Upper limb defect eye and ear abnormalities N/A N/A No information
Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly N/A N/A No information
Asternia N/A N/A No information
Spondylocostal dysostosis with anal atresia and urogenital anomalies N/A N/A No information
Cervical ribs, sprengel anomaly, anal atresia, urethral obstruction N/A N/A No information
Congenital absence of the sternocleidomastoid muscle N/A N/A No information
Solitary maxillary central incisor, short stature, and choanal atresia N/A N/A No information
Blepharoptosis -- cleft palate -- ectrodactyly -- dental anomalies N/A N/A No information
Ectodermal dysplasia -- ectrodactyly -- macular dystrophy N/A N/A No information
Fibular aplasia -- ectrodactyly N/A N/A No information
Ectrodactyly -- cardiopathy -- dysmorphism N/A N/A No information
Short stature -- monodactylous -- ectrodactyly -- cleft palate N/A N/A No information
Cleft palate -- cardiac defect -- genital anomalies -- ectrodactyly N/A N/A No information
Holoprosencephaly -- ectrodactyly -- cleft lip/palate N/A N/A No information
Hydrops ectrodactyly syndactyly N/A N/A No information
Ectrodactyly ectrodermal dysplasia N/A N/A No information
Anophthalmia -- short stature -- obesity N/A N/A No information
Anophthalmia -- cleft palate -- micrognathia N/A N/A No information
Anophthalmia -- hand and foot defects -- mental retardation N/A N/A No information
Anophthalmia -- microcephaly -- hypogonadism N/A N/A No information
Short limbs subluxed knees cleft palate N/A N/A No information
Cardiac malformation, cleft lip-palate, microcephaly and digital anomalies N/A N/A No information
Familial patella aplasia-hypoplasia N/A N/A No information
Growth delay -- mental retardation -- mandibulofacial dysostosis -- microcephaly -- cleft palate N/A N/A No information
Craniosynostosis arthrogryposis cleft palate N/A N/A No information
Palant cleft palate syndrome N/A N/A No information
Dysraphism -- cleft lip palate -- limb reduction defects N/A N/A No information
Microbrachycephaly -- ptosis -- cleft lip N/A N/A No information
EEC syndrome without cleft lip/palate N/A N/A No information
Leg absence -- deformity -- cataract N/A N/A No information
Contractures -- ectodermal dysplasia -- cleft lip palate N/A N/A No information
Tibial hemimelia -- cleft lip/palate N/A N/A No information
Microcephaly, corpus callosum dysgenesis and cleft lip-palate N/A N/A No information
Sternal cleft N/A N/A No information
Multiple Hereditary Exostoses N/A N/A No information
Exostoses, multiple N/A N/A No information
Exostoses N/A N/A No information
Exostoses, multiple, type 1 N/A N/A No information
Pauciarticular chronic arthritis N/A N/A No information
Exostoses, multiple, type 3 N/A N/A No information
Exostoses -- anetodermia -- brachydactyly type E N/A N/A No information
Craniosynostosis exostoses nevus epibulbar dermoid N/A N/A No information
Spastic paraparesis deafness N/A N/A No information
Laron Dwarfism N/A N/A No information
Laron Type Pituitary Dwarfism 1 N/A N/A No information
Laron Pituitary Dwarfism N/A N/A No information
Laron-type Dwarfism Phenotypic Syndrome N/A N/A No information
Laron-type dwarfism N/A N/A No information
Laron syndrome type 1 N/A N/A No information
Laron syndrome type 2 N/A N/A No information
Laron Syndrome N/A N/A No information
Uropathy distal obstructive polydactyly N/A N/A No information
Bone infarct N/A N/A No information
Distal hereditary motor neuropathy, type V N/A N/A only a few cases of distal hereditary motor neuropathy, type V have been reported, Genetics Home Reference website
Lower motor neuron weakness N/A N/A No information
Upper motor neuron weakness N/A N/A No information
Severe infantile axonal neuropathy N/A N/A No information
Adrenomyeloneuropathy N/A N/A No information
Neuropathy, distal hereditary motor N/A N/A No information
Neuropathy, distal hereditary motor, type VIIA N/A N/A No information
Polyradiculoneuropathy N/A N/A No information
Neuropathy, distal hereditary motor, type III N/A N/A No information
Congenital hypomyelination neuropathy N/A N/A No information
Corpus callosum agenesis-neuropathy N/A N/A No information
Giant axonal neuropathy N/A N/A No information
Ellis-van Creveld syndrome N/A N/A 1 per 60,000 - 200,000 newborns are affected by Ellis-van Creveld syndrome worldwide, Genetics Home Reference website
Chondroectodermal dysplasia N/A N/A No information
Night blindness -- skeletal anomalies -- unusual facies N/A N/A No information
Myoclonic dystonia N/A N/A No information
Infantile axonal neuropathy N/A N/A No information
Spastic paraplegia -- neuropathy -- poikiloderma N/A N/A No information
Fanconi pancytopenia N/A N/A No information
Facies unusual arthrogryposis advanced skeletal malformations N/A N/A No information
Cardiocranial syndrome N/A N/A No information
Kaufman oculocerebrofacial syndrome N/A N/A No information
Idiopathic double athetosis N/A N/A No information
Duplication of the thumb, unilateral biphalangeal N/A N/A No information
Dysgnathia complex N/A N/A No information
Palmoplantar keratoderma -- amyotrophy N/A N/A No information
Keratosis palmaris et plantaris -- clinodactyly N/A N/A No information
Arterial tortuosity syndrome N/A N/A No information
Contractures hyperkeratosis lethal N/A N/A No information
Nevo syndrome N/A N/A No information
Craniosynostosis, anal anomalies, and porokeratosis N/A N/A No information
Acrorenal syndrome N/A N/A No information
Spondylocarpotarsal synostosis N/A N/A No information
Hemifacial microsomia macrodactyly N/A N/A No information
Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia N/A N/A No information
Diaphanospondylodysostosis N/A N/A No information
Arachnodactyly -- Intellectual Deficit -- Dysmorphism N/A N/A No information
Ectomorphic Habitus -- Severe Mental Retardation -- Characteristic Face N/A N/A No information
Al Awadi-Raas-Rothschild syndrome N/A N/A No information
Skeletal and Cardiac Malformations with thrombocytopenia N/A N/A No information
Skeleto cardiac syndrome with thrombocytopenia N/A N/A No information
Spondylohypoplasia arthrogryposis popliteal pterygium N/A N/A No information
Congenital fiber type disproportion N/A N/A No information
Pyogenic arthritis -- pyoderma gangrenosum -- acne N/A N/A No information
Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation N/A N/A No information
Achondrogenesis type 1A N/A N/A No information
Achondrogenesis type 2 N/A N/A No information
Achondrogenesis, Langer-Saldino Type N/A N/A No information
Achondrogenesis type 1B N/A N/A No information
Achondrogenesis type 1A and 1B N/A N/A No information
Type II Achondrogenesis-Hypochondrogenesis N/A N/A No information
Atelosteogenesis, type 1 N/A N/A No information
Atelosteogenesis Type III N/A N/A No information
Atelosteogenesis, type 2 N/A N/A No information
Achondrogenesis N/A N/A 1 per 40,000 - 60,000 people are affected by achondrogenesis type 2 and hypochondrogenesis, Genetics Home Reference website
Pyknoachondrogenesis N/A N/A No information
Achondrogenesis, type 3 N/A N/A No information
Achondrogenesis, type 4 N/A N/A No information
Torsion dystonia, autosomal dominant N/A N/A No information
Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails N/A N/A No information
Accessory navicular bone N/A N/A No information
Camptodactyly syndrome, Guadalajara type 1 N/A N/A No information
Goodman camptodactyly N/A N/A No information
Spondylo camptodactyly syndrome N/A N/A No information
Tel-Hashomer camptodactyly syndrome N/A N/A No information
Syncamptodactyly -- scoliosis N/A N/A No information
Camptodactyly syndrome, Guadalajara type 2 N/A N/A No information
Camptodactyly syndrome, Guadalajara type III N/A N/A No information
Camptodactyly syndrome, Guadalajara type 3 N/A N/A No information
Camptodactyly, tall stature, and hearing loss syndrome N/A N/A No information
Camptodactyly -- taurinuria N/A N/A No information
Camptodactyly -- vertebral fusion N/A N/A No information
Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia N/A N/A No information
Epidermal nevus -- vitamin D resistant rickets N/A N/A No information
Hip dysplasia N/A N/A No information
Pseudoachondroplasia N/A N/A No information
Hyperthermia induced defects N/A N/A No information
Contractures, congenital, torticollis and malignant hyperthermia N/A N/A No information
Metacarpals 4 and 5 fusion N/A N/A No information
Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia N/A N/A No information
Thrombocytopenia -- cerebellar hypoplasia -- short stature N/A N/A No information
Corneal cerebellar syndrome N/A N/A No information
Radius absent -- anogenital anomalies N/A N/A No information
Craniofaciocardioskeletal syndrome N/A N/A No information
Polymicrogyria -- turricephaly -- hypogenitalism N/A N/A No information
Muscle phosphoglycerate mutase deficiency N/A N/A No information
Hanhart syndrome type II N/A N/A No information
Hanhart syndrome type IV N/A N/A No information
Hanhart Syndrome N/A N/A No information
Hanhart syndrome type III N/A N/A No information
Hanhart syndrome type I N/A N/A No information
Matsoukas syndrome N/A N/A No information
Osteoarthropathy of fingers, familial N/A N/A No information
Coffin-Lowry syndrome N/A N/A estimated 7 per 100,000 people have Coffin-Lowry syndrome in western Europe and North America, Genetics Home Reference website
Fahr's Syndrome N/A N/A rare
Inclusion Body Myositis N/A N/A No information
Infantile Spasms N/A N/A No information
Melkersson-Rosenthal Syndrome N/A N/A No information
Hypokalemic periodic paralysis N/A N/A 1 per 100,000 people suffer from hypokalemic periodic paralysis, Genetics Home Reference website
Hyperkalemic periodic paralysis N/A N/A 1 per 200,000 people are affected by hyperkalemic periodic paralysis, Genetics Home Reference website
Periodic Paralyses N/A N/A No information
Tardive Dyskinesia N/A N/A No information
Stiff-Person Syndrome N/A N/A rare
Cerebelloparenchymal autosomal recessive disorder 3 N/A N/A No information
Cerebelloparenchymal disorder 3 N/A N/A No information
Cerebelloparenchymal disorder V N/A N/A No information
Encephalopathy -- intracranial calcification -- growth hormone deficiency -- microcephaly -- retinal degeneration N/A N/A No information
L1 Syndrome N/A N/A No information
Macrocephaly pigmentation large hands feet N/A N/A No information
Paget disease juvenile type N/A N/A No information
Juvenile Paget disease N/A N/A No information
Paget's disease, type 1 N/A N/A No information
Paget's disease, type 4 N/A N/A No information
Microcephaly -- glomerulonephritis -- Marfanoid habitus N/A N/A No information
Larsen syndrome, dominant type N/A N/A No information
Larsen-like osseous dysplasia -- dwarfism N/A N/A No information
Larsen-like syndrome, lethal form N/A N/A No information
Larsen syndrome N/A N/A No information
Larsen syndrome, recessive type N/A N/A No information
Larsen-like syndrome, lethal type N/A N/A No information
Immunodeficiency with short limb dwarfism N/A N/A No information
Microcephalic primordial dwarfism, Toriello type N/A N/A No information
Pterygium syndrome multiple dominant type N/A N/A No information
Pterygium syndrome, antecubital N/A N/A No information
Pterygium colli -- mental retardation -- digital anomalies N/A N/A No information
FG Syndrome N/A N/A No information
Scott Craniodigital Syndrome N/A N/A No information
Shwachman-Diamond Syndrome N/A N/A No information
Proteus Syndrome N/A N/A No information
Fountain Syndrome N/A N/A No information
Cat's cry N/A N/A No information
Cleidocranial dysplasia N/A N/A No information
Brachmann-De Lange Syndrome N/A N/A No information
Multiple pterygium syndrome N/A N/A No information
Albright's hereditary osteodystrophy N/A N/A No information
Acromesomelic dysplasia N/A N/A No information
Langer mesomelic dysplasia N/A N/A No information
Melnick-Needles syndrome N/A N/A No information
Seckle syndrome N/A N/A No information
Diastrophic dysplasia N/A N/A estimated 1 per 100,000 newborns are affected by diastrophic dysplasia, Genetics Home Reference website
VATER association N/A N/A No information
Multiple pterygium syndrome lethal type N/A N/A No information
Metatropic dwarfism N/A N/A No information
Leri-Weil syndrome N/A N/A No information
Craniofrontonasal dysplasia N/A N/A No information
Conradi-Hunermann syndrome N/A N/A No information
Progeria short stature pigmented nevi N/A N/A No information
Forestier's disease N/A N/A No information
Marfanoid hypermobility N/A N/A No information
Spondyloepimetaphyseal dysplasia, hypotrichosis N/A N/A No information
Patella aplasia, coxa vara, tarsal synostosis N/A N/A No information
Congenital torticollis N/A N/A No information
Normokalemic periodic paralysis N/A N/A No information
Microcephalic osteodysplastic primordial dwarfism, type 1 N/A N/A No information
Acalvaria N/A N/A No information
Funnel Chest N/A N/A No information
Ischiadic hypoplasia -- renal dysfunction -- immunodeficiency N/A N/A No information
Obesity, hypothyroidism, craniosynostosis, cardial hypertrophy, colitis and intellectual deficiency N/A N/A No information
Spondylometaphyseal dysplasia -- cone-rod dystrophy N/A N/A No information
Spondylometaphyseal dysplasia, axial N/A N/A No information
Spondylometaphyseal dysplasia, Algerian type N/A N/A No information
Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism N/A N/A No information
Spondylometaphyseal dysplasia, east-African type N/A N/A No information
Spondylometaphyseal dysplasia, Sedaghatian type N/A N/A No information
Spondylometaphyseal dysplasia, 'corner fracture' type N/A N/A No information
Spondylometaphyseal dysplasia, Kozlowski type N/A N/A No information
Spondylometaphyseal dysplasia with combined immunodeficiency N/A N/A No information
Spondylometaphyseal dysplasia, X-linked N/A N/A No information
VACTERL with hydrocephalus, X-linked N/A N/A No information
VACTERL association N/A N/A No information
VACTERYL hydrocephaly N/A N/A No information
VACTERL association with hydrocephaly, X-linked N/A N/A No information
Alternating hemiplegia of childhood N/A N/A No information
Stickler's syndrome N/A N/A No information
Stickler Syndrome N/A N/A estimated 1 per 7,500 - 9,000 newborns suffer from Stickler syndrome, Genetics Home Reference website
Stickler Syndrome, type II N/A N/A No information
Stickler Syndrome, type III N/A N/A No information
Stickler Syndrome, type I N/A N/A No information
Thanatophoric dysplasia, type 2 N/A N/A No information
Thanatophoric dysplasia, type 1 N/A N/A No information
Osteogenesis imperfecta congenita, microcephaly, and cataracts N/A N/A No information
Multiple synostosis syndrome N/A N/A No information
Pseudohypoparathyroidism N/A N/A No information
Isaacs syndrome N/A N/A No information
Muscle-eye-brain syndrome N/A N/A No information
Eosinophilic granuloma N/A N/A No information
Spastic quadriplegia -- retinitis pigmentosa -- mental retardation N/A N/A No information
Connective tissue dysplasia, Spellacy type N/A N/A No information
Kenny-Caffey Syndrome N/A N/A No information
Kenny-Caffey syndrome, Type 2 N/A N/A No information
Kenny-Caffey syndrome, Type 1 N/A N/A No information
Spondylocostal dysostosis, autosomal recessive 3 N/A N/A No information
Spondylocostal dysostosis, autosomal recessive 1 N/A N/A No information
Spondylocostal dysostosis, autosomal recessive 2 N/A N/A No information
Spastic diplegia, infantile type N/A N/A No information
Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations N/A N/A No information
Opthalmoplegia -- myalgia -- tubular aggregates N/A N/A No information
Short stature -- cranial hyperostosis -- hepatomegaly N/A N/A No information
Short stature -- contractures -- hypotonia N/A N/A No information
Craniomicromelic syndrome N/A N/A No information
Digitorenocerebral syndrome N/A N/A No information
Craniofaciocervical osteoglyphic dysplasia N/A N/A No information
Microcephaly -- deafness syndrome N/A N/A No information
Multiple sclerosis -- ichthyosis -- factor 8 deficiency N/A N/A No information
Rudd-Klimek syndrome N/A N/A No information
Polyneuropathy -- mental retardation -- acromicria -- premature menopause N/A N/A No information
Meckel syndrome type 2 N/A N/A No information
Nephrosis -- deafness -- urinary tract -- digital malformation N/A N/A No information
Microcephaly -- oculo-digito-esophageal-duodenal syndrome (MODED) N/A N/A No information
Meckel Syndrome N/A N/A No information
Meckel syndrome type 3 N/A N/A No information
Meckel syndrome, type 5 N/A N/A No information
Spinal dysostosis, type Anhalt N/A N/A No information
Popliteal pterygium syndrome, lethal type N/A N/A No information
Pterygium, Popliteal, lethal type N/A N/A No information
Spondylohypoplasia, arthrogryposis and popliteal pterygium N/A N/A No information
Arachnodactyly -- mental retardation -- dysmorphism N/A N/A No information
Dyschondrosteosis -- nephritis N/A N/A No information
Anonychia -- microcephaly N/A N/A No information
Myoclonus-ataxia N/A N/A No information
Congenital heart disease, ptosis, hypodontia, craniosynostosis N/A N/A No information
Skeletal dysplasia, San Diego type N/A N/A No information
Tabatznik syndrome N/A N/A No information
Pelvic-shoulder dysplasia N/A N/A No information
Femur-fibula-ulna syndrome N/A N/A No information
Spondyloepimetaphyseal dysplasia with joint laxity N/A N/A No information
Tarsal carpal coalition syndrome N/A N/A No information
Neurofaciodigitorenal syndrome N/A N/A No information
Microcephaly, autosomal dominant N/A N/A No information
Coarse face -- hypotonia -- constipation N/A N/A No information
Microcephalic osteodysplastic primordial dwarfism, type 2 N/A N/A No information
Lopes-Marques de Faria syndrome N/A N/A No information
Microcephalic osteodysplastic primordial dwarfism, type 3 N/A N/A No information
Septooptic dysplasia -- digital anomalies N/A N/A No information
Narrow oral fissure -- short stature -- cone-shaped epiphyses N/A N/A No information
Spastic paresis -- glaucoma -- mental retardation N/A N/A No information
Primerose syndrome N/A N/A No information
Radio-ulnar synostosis type 2 N/A N/A No information
Ankyloglossia -- heterochromia -- clasped thumbs N/A N/A No information
Spondylocostal dysostosis, autosomal recessive N/A N/A No information
Lethal chondrodysplasia, Moerman type N/A N/A No information
Oculodigitoesophagoduodenal syndrome N/A N/A No information
Spastic paraplegia with Kallmann syndrome N/A N/A No information
Nivelon-Nivelon-Mabille syndrome N/A N/A No information
Facial dysmorphism -- shawl scrotum -- joint laxity syndrome N/A N/A No information
Thumb deformity, alopecia, pigmentation anomaly N/A N/A No information
Tsao-Ellingson syndrome N/A N/A No information
Haspeslagh Fryns Muelenaere syndrome N/A N/A No information
Kousseff-Nichols syndrome N/A N/A No information
Pilotto syndrome N/A N/A No information
Congenital cystic eye, multiple ocular and intracranial anomalies N/A N/A No information
Pyomyositis N/A N/A No information
Pyogenic arthritis, pyoderma gangrenosum, and acne N/A N/A No information
Dinno-Shearer-Weisskopf syndrome N/A N/A No information
Otoonychoperoneal syndrome N/A N/A No information
Spondylocostal dysplasia dominant N/A N/A No information
Spondyloepimetaphyseal dysplasia, micromelic N/A N/A No information
Marfanoid -- mental retardation syndrome autosomal N/A N/A No information
Ectodermal dysplasia -- neurosensory deafness N/A N/A No information
Spondyloepimetaphyseal dysplasia congenita, Iraqi N/A N/A No information
Short stature -- talipes -- natal teeth N/A N/A No information
Thumb absent -- short stature -- immune deficiency N/A N/A No information
Short stature -- abnormal skin pigmentation -- mental retardation N/A N/A No information
Humerus, trochlea, aplasia of N/A N/A No information
Microcephaly, primary autosomal recessive, 3 N/A N/A No information
Skeletal dysplasia -- coarse facies -- mental retardation N/A N/A No information
Neuritis with brachial predilection N/A N/A No information
Synostosis of talus and calcaneus -- short stature N/A N/A No information
Pseudomyotonia N/A N/A No information
Rheumatoid vasculitis N/A N/A No information
Microcephaly, Amish type N/A N/A No information
Chondrodysplasia punctata, Sheffield type N/A N/A No information
Chondrodysplasia punctata, tibia-metacarpal type N/A N/A No information
Chondrodysplasia punctata, brachytelephalangic N/A N/A No information
Chondrodysplasia Punctata, Rhizomelic type N/A N/A No information
Chondrodysplasia punctata, humero-metacarpal type N/A N/A No information
Rhizomelic chondrodysplasia punctata, type 1 N/A N/A No information
Rhizomelic chondrodysplasia punctata, type 2 N/A N/A No information
Rhizomelic chondrodysplasia punctata, type 3 N/A N/A No information
Acrocephaly -- pulmonary stenosis -- mental retardation N/A N/A No information
Iris coloboma, macrocephaly, agenesis of the corpus callosum, brachydactyly and mental retardation N/A N/A No information
Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia N/A N/A No information
Coloboma of macula, type B brachydactyly N/A N/A No information
Trigonocephaly -- ptosis -- coloboma N/A N/A No information
Cartwright-Nelson-Fryns syndrome N/A N/A No information
Lethal congenital contracture syndrome 1 N/A N/A No information
Lethal congenital contracture syndrome 2 N/A N/A No information
Genu valgum, St Helena familial N/A N/A No information
Platyspondylic lethal chondrodysplasia N/A N/A No information
Hand-foot-uterus syndrome N/A N/A No information
Synovitis granulomatous with uveitis and cranial neuropathies N/A N/A No information
Metaphyseal chondrodysplasia Spahr type N/A N/A No information
Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands N/A N/A No information
Leukoencephalopathy -- metaphyseal chondrodysplasia N/A N/A No information
Quadrupedal gait, primitive speech and severe mental retardation N/A N/A No information
Metaphyseal chondrodysplasia, recessive type N/A N/A No information
Unusual facies, digital anomalies, and supernumerary teeth N/A N/A No information
Familial hematuria, autosomal dominant -- retinal arteriolar tortuosity -- contractures N/A N/A No information
Lethal arthrogryposis with anterior horn cell disease (LAAHD) N/A N/A No information
Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa N/A N/A No information
Neuronopathy, distal hereditary motor, type IIB N/A N/A No information
Gnathodiaphyseal dysplasia N/A N/A No information
Craniofacioskeletal syndrome N/A N/A No information
Long thumb brachydactyly, maxillary hypoplasia, mental retardation and unusual facies N/A N/A No information
Unusual facies, preauricular pits, fifth finger clinodactyly and tetralogy of Fallot N/A N/A No information
Digital arthropathy-brachydactyly, familial N/A N/A No information
Unusual facies, mental retardation, short stature, hemolytic anemia and delayed puberty N/A N/A No information
Muscle Hypotonia N/A N/A No information
Osteoporosis -- macrocephaly -- blindness -- joint hyperlaxity N/A N/A No information
Microcephaly micropenis convulsions N/A N/A No information
Platyspondylic lethal skeletal dysplasia, Torrance type N/A N/A only a few cases of platyspondylic lethal skeletal dysplasia, Torrance type have been reported worldwide, Genetics Home Reference website
Fibrous dysplasia of bone N/A N/A No information
Acropectoral syndrome N/A N/A No information
Acrodysplasia scoliosis N/A N/A No information
Dysostosis N/A N/A No information
Acroosteolysis neurogenic N/A N/A No information
Acrofrontofacionasal dysostosis syndrome N/A N/A No information
Acropectorovertebral dysplasia N/A N/A No information
Acromesomelic dysplasia, Maroteaux type N/A N/A No information
Acrofacial dysostosis Preis type N/A N/A No information
Macrocephaly, benign familial N/A N/A No information
Degenerative motor system disease N/A N/A No information
Bowing of legs, anterior, with dwarfism N/A N/A No information
Bone fragility, craniosynostosis, proptosis, hydrocephalus N/A N/A No information
Brachydactylous dwarfism, Mseleni type N/A N/A No information
Periodic paralysis, potassium-sensitive, cardiodysrythmic type N/A N/A No information
Short stature locking fingers N/A N/A No information
Pierre Robin syndrome -- fetal chondrodysplasia N/A N/A No information
Spondylo-humero-femoral dysplasia N/A N/A No information
Syndactyly type 1 -- microcephaly -- mental retardation N/A N/A No information
Macrocephaly -- short stature -- paraplegia N/A N/A No information
X-linked mental retardation -- hypotonia N/A N/A No information
Microcephaly brachydactyly kyphoscoliosis N/A N/A No information
Short stature deafness neutrophil dysfunction N/A N/A No information
Short stature webbed neck heart disease N/A N/A No information
Tetramelic deficiencies -- Ectodermal dysplasia -- deformed ears -- other abnormalities N/A N/A No information
Ulna hypoplasia with mental retardation N/A N/A No information
Fibular hypoplasia or aplasia -- femoral bowing -- oligodactyly N/A N/A No information
Fuhrmann-Rieger-de Sousa syndrome N/A N/A No information
Hydrocephalus -- growth delay -- skeletal anomalies N/A N/A No information
Bone dysplasia Moore type N/A N/A No information
Gerodermia osteodysplastica N/A N/A No information
Gerodermia osteodysplasticum N/A N/A No information
Bowing of Long Bones, Asymmetrical and Symmetrical N/A N/A No information
Rieger anomaly -- partial lipodystrophy N/A N/A No information
SHORT Syndrome N/A N/A No information
Theodor-Hertz-Goodman syndrome N/A N/A No information
Allison atrophy N/A N/A No information
Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome N/A N/A No information
Antithyroid arthritis syndrome N/A N/A No information
Armendares syndrome N/A N/A No information
Limb-mammary syndrome N/A N/A No information
Robin sequence oligodactyly N/A N/A No information
Desbuquois dysplasia N/A N/A No information
Juvenile idiopathic arthritis N/A N/A No information
Hallux limitus N/A N/A No information
Clavicle, pseudoarthrosis of, congenital N/A N/A No information
Congenital craniosynostosis maternal hyperthyroiditis N/A N/A No information
Gram's syndrome N/A N/A No information
Hunter-MacDonald syndrome N/A N/A No information
Chondrodysplasia punctata lethal neonatal N/A N/A No information
Macrocephaly, rhizomelia and conductive hearing loss N/A N/A No information
Multiple pterygium syndrome, autosomal recessive N/A N/A No information
Facio-cardio-musculo-skeletal syndrome N/A N/A No information
Taurodontism and disproportionate short stature N/A N/A No information
Craniodiaphyseal dysplasia, autosomal dominant N/A N/A No information
Hydrops fetalis -- anaemia -- immune disorder -- absent thumb N/A N/A No information
Oligodontia, microcephaly, short stature and characteristic facies N/A N/A No information
Craniometadiaphyseal dysplasia, wormian bone type N/A N/A No information
Dauwerse-Peters syndrome N/A N/A No information
Hypotonia -- failure to thrive -- microcephaly N/A N/A No information
Macrocephaly, facial abnormalities, disproportionate tall stature and mental retardation N/A N/A No information
Short stature and short, thin, dilacerated dental roots N/A N/A No information
Osteoporosis, severe -- shortened long bones -- white sclerae N/A N/A No information
Eccentrochondrodysplasia N/A N/A No information
Hyperkinesis N/A N/A No information
Microcephalic osteodysplastic dysplasia, Saul-Wilson type N/A N/A No information
Saethre-Chotzen syndrome, chromosome 7 p21.1p21.3 N/A N/A No information
Unusual facies, short stature, enamel hypoplasia, stiff joints and high-pitched voice N/A N/A No information
Mesomelia radial hypoplasia bifid thumb unusual facies N/A N/A No information
Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3 N/A N/A No information
Autonomic Dysreflexia N/A N/A No information
Chondrodysplasia punctata N/A N/A No information
Osteoradionecrosis N/A N/A No information
Oligodontia, keratitis, skin ulceration and arthroosteolysis N/A N/A No information
Infantile spasms -- broad thumbs N/A N/A No information
Weaver like syndrome N/A N/A No information
Mc Leod neuroacanthocytosis syndrome N/A N/A No information
Dysspondyloenchondromatosis N/A N/A No information
Brachydactyly, mesomelia, mental retardation, aortic dilation, mitral valve prolapse and characteristic face N/A N/A No information
Flail Chest N/A N/A No information
Sparse hair -- short stature -- skin anomalies N/A N/A No information
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency N/A N/A No information
Ossification anomalies -- psychomotor development N/A N/A No information
Cranio-facio-cardio-skeletal dysplasia N/A N/A No information
Craniorachischisis N/A N/A No information
Houlston ironton temple syndrome de N/A N/A No information
Achondroplasia regional -- dysplasia abdominal muscle N/A N/A No information
Leigh syndrome, Saguenay-Lac-St. Jean type N/A N/A No information
Mayer-Rokitansky-Kuster-Hauser, syndrome, type 2 (MRKH type 2) N/A N/A No information
Koussef nichols syndrome N/A N/A No information
Ear, patella, short stature syndrome N/A N/A No information
Gracile bone dysplasia N/A N/A No information
Craniotubular syndrome N/A N/A No information
Calvarial doughnut lesions -- bone fragility N/A N/A No information
Lumbar malsegmentation, short stature and facial anomalies N/A N/A No information
Lethal congenital contracture syndrome (LCCS) N/A N/A No information
Unusual facies, hypotonia, mental retardation and radioulnar synostosis N/A N/A No information
Limbic encephalitis -- neuromyotonia -- hyperhidrosis -- polyneuropathy N/A N/A No information
Nodulosis-arthropathy-osteolysis syndrome N/A N/A No information
Bruck syndrome 1 N/A N/A No information
Bruck syndrome, 2 N/A N/A No information
Craniofacial -- deafness -- hand syndrome N/A N/A No information
Radio digito -- facial dysplasia N/A N/A No information
Osteoporosis -- oculocutaneous -- hypopigmentation syndrome N/A N/A No information
Short limb dwarf mental retardation myopia N/A N/A No information
Desbuquois dysplasia-like syndrome N/A N/A No information
Monomelic Amyotrophy N/A N/A No information
Todd's Paralysis N/A N/A No information
Wallenberg's Syndrome N/A N/A No information
Reiterís syndrome N/A N/A No information
TMJ Syndrome N/A N/A No information
Rheumatic conditions N/A N/A nearly 43 Americans have arthritis or a rheumatic disease (CDC); 40 million people in the United States (NIAMS)
Reflex sympathetic dystrophy syndrome N/A N/A No information
Scheuermann's disease N/A N/A No information
Avascular necrosis N/A N/A No information
McCune-Albright Syndrome N/A N/A No information
Marfan syndrome N/A N/A 1 per 5,000 people are affected by Marfan syndrome worldwide, Genetics Home Reference website
Onychogryphosis N/A N/A No information
Osteochondritis Dissecans N/A N/A No information
Neuromyotonia N/A N/A No information
Familial Articular Chondrocalcinosis N/A N/A No information
Clubfoot N/A N/A No information
Infantile hypophosphatasia N/A N/A No information
Vertebral body fusion overgrowth N/A N/A No information
Vertebral fusion posterior lumbosacral blepharoptosis N/A N/A No information
Cataplexy N/A N/A No information
Intermittent Claudication N/A N/A No information
Tetany N/A N/A No information
Cervical Spondylosis N/A N/A No information
Benign Fasciculation Syndrome N/A N/A No information
Rhabdomyolysis N/A N/A No information
Chondritis N/A N/A No information
Myokymia N/A N/A No information
Enthesopathy N/A N/A No information
Periostitis N/A N/A No information
Walker-Warburg Syndrome N/A N/A No information
Locked-in Syndrome N/A N/A No information
Hyperekplexia N/A N/A No information
Oculo-osteo-cutaneous syndrome N/A N/A No information
Osteopaenia -- myopia -- hearing loss -- intellectual deficit -- facial dysmorphism N/A N/A No information
Sensorineural hearing loss, early greying, and essential tremor N/A N/A No information
Spondylo-ocular syndrome N/A N/A No information
Nail-Patella Syndrome N/A N/A No information
Kuf Disease N/A N/A No information
Fibrodysplasia Ossificans Progressiva N/A N/A No information
Dyschondrosteosis N/A N/A No information
Singleton-Merten Syndrome N/A N/A No information
Dyggve-Melchior-Clausen Syndrome N/A N/A No information
Lambert-Eaton Myasthenic Syndrome N/A N/A No information
Marden-Walker Syndrome N/A N/A No information
Felty Syndrome N/A N/A No information
Sclerosteosis N/A N/A No information
Weismann-Netter-Stuhl Syndrome N/A N/A No information
Weill-Marchesani Syndrome N/A N/A No information
Weaver Syndrome N/A N/A No information
Yunis Varon syndrome N/A N/A No information
Townes-Brocks Syndrome N/A N/A No information
Brailsford N/A N/A No information
Brachymesophalangy 2 and 5 N/A N/A No information
Brachymesomelia-renal syndrome N/A N/A No information
$3-M Syndrome$ N/A N/A No information
Familial Expansile Osteolysis N/A N/A No information
Pyknodysostosis N/A N/A No information
Ruvalcaba-Myhre-Smith Syndrome N/A N/A No information
MURCS Association N/A N/A No information
Aase syndrome 2 N/A N/A No information
Aase Smith syndrome N/A N/A No information
Aase-Smith I syndrome N/A N/A No information
Mulibrey Nanism syndrome N/A N/A No information
Zimmerman-Laband syndrome N/A N/A No information
Ollier Disease N/A N/A No information
Central Core Disease N/A N/A No information
Aarskog Syndrome N/A N/A No information
Schinzel Giedion Syndrome N/A N/A No information
Antley-Bixler Syndrome N/A N/A No information
Pachydermoperiostosis N/A N/A No information
Acrocallosal Syndrome (Schinzel Type) N/A N/A No information
Baller-Gerold Syndrome N/A N/A No information
Hypophosphatasia N/A N/A No information
Aase Syndrome N/A N/A No information
Cohen Syndrome N/A N/A No information
Dubowitz Syndrome N/A N/A No information
Cerebrocostomandibular Syndrome N/A N/A No information
Catel-Manzke Syndrome N/A N/A No information
Nager Syndrome N/A N/A No information
MULIBREY Nanism N/A N/A No information
Schwartz-Jampel Syndrome N/A N/A No information
Pallister-Hall Syndrome N/A N/A No information
KBG Syndrome N/A N/A No information
Laband Syndrome N/A N/A No information
Craniofrontonasal Syndrome N/A N/A No information
Jarcho-Levin Syndrome N/A N/A No information
Leri Pleonosteosis N/A N/A No information
Maffucci Syndrome N/A N/A No information
Marshall-Smith Syndrome N/A N/A No information
Schinzel Syndrome N/A N/A No information
Roberts Pseudothalidomide Syndrome N/A N/A No information
C-like syndrome N/A N/A No information
Conradi-Huenermann Syndrome N/A N/A No information
Acrosphenosyndactylia N/A N/A No information
Mullerian Aplasia -- Renal Aplasia -- Cervicothoracic Somite Dysplasia N/A N/A No information
Jequier-Kozlowski-skeletal dysplasia N/A N/A No information
Epimetaphyseal skeletal dysplasia N/A N/A No information
Sketetal dysplasia coarse facies mental retardation N/A N/A No information
Gerodermia osteodysplastica hereditaria N/A N/A No information
Auriculoosteodysplasia N/A N/A No information
Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski N/A N/A No information
Osteodysplastic dwarfism, Corsello type N/A N/A No information
Geroderma osteodysplastica N/A N/A No information
McKusick type metaphyseal chondrodysplasia N/A N/A No information
Chondrodysplasia -- pseudohermaphrodism N/A N/A No information
Chondrodysplasia, acromesomelic, with genital anomalies N/A N/A No information
Chondrodystrophy N/A N/A No information
Lethal chondrodysplasia, Seller type N/A N/A No information
Hypertrichotic osteochondrodysplasia N/A N/A No information
Chondrodysplasia, Grebe type N/A N/A No information
Spondyloenchondrodysplasia N/A N/A No information
Jansen type metaphyseal chondrodysplasia N/A N/A No information
Metaphyseal chondrodysplasia Schmid type N/A N/A No information
Cranio osteoarthropathy N/A N/A No information
Osteodysplasia, familial, Anderson type N/A N/A No information
Neuronal intranuclear hyaline inclusion disease N/A N/A No information
Juvenile hyaline fibromatosis N/A N/A No information
Moore Smith Weaver syndrome N/A N/A No information
Al Gazali -- Nair syndrome N/A N/A No information
Kennerknecht syndrome N/A N/A No information
Beveridge syndrome N/A N/A No information
Hyalinosis, infantile systemic N/A N/A No information
Multicentric osteolysis -- nodulosis -- arthropathy N/A N/A No information
Cantu syndrome N/A N/A No information
Jaffe-Lichtenstein-Sutro syndrome N/A N/A No information
Jaffe-Lichtenstein syndrome N/A N/A No information
Brachio-Skeletal-Genital Syndrome N/A N/A No information
Thanos-Stewart-Zonana Syndrome N/A N/A No information
Lichtenstein syndrome N/A N/A No information
Braddock Jones Superneau syndrome N/A N/A No information
Cantu Sanchez-Corona Garcia-cruz syndrome N/A N/A No information
Stuve-Wiedemann syndrome N/A N/A No information
Stuve-Wiedemann dysplasia N/A N/A No information
Koroxenidis Syndrome N/A N/A No information
Camera Costa Syndrome N/A N/A No information
Cranio-facio-digito-genital syndrome N/A N/A No information
Stoll Levy Francort Syndrome N/A N/A No information
Freire-Maia syndrome N/A N/A No information
Fibronectin-Deficient EDS N/A N/A No information
Kozlowski Celermajer Tink syndrome N/A N/A No information
Slavotinek hurst syndrome N/A N/A No information
Greenberg dysplasia N/A N/A No information
HEM dysplasia N/A N/A No information
Acrocallosal syndrome N/A N/A No information
Tietze's syndrome N/A N/A No information
Saguenay-Lac Saint Jean -- COX deficiency N/A N/A No information
Rathburn disease N/A N/A No information
Dancing Eye syndrome N/A N/A No information
Hip dysplasia -- enchondromata -- ecchondromata N/A N/A No information
Mac Duffie's syndrome N/A N/A No information
Glaucoma ectopia microspherophakia stiff joints short stature N/A N/A No information
Cirrhosis-like flapping tremens N/A N/A No information
Ectopic acromegaly N/A N/A No information
Gustavson syndrome N/A N/A No information
Cruse Syndrome N/A N/A No information
Dyck Syndrome N/A N/A No information
Robinson syndrome N/A N/A No information
Segawa syndrome, autosomal dominant N/A N/A No information
Segawa syndrome, autosomal recessive N/A N/A No information
Primary craniosynostosis N/A N/A No information
Borrone-Di Rocco-Crovato syndrome N/A N/A No information
Cortada Koussef Matsumoto syndrome N/A N/A No information
Craniofacial conodysplasia N/A N/A No information
Craniolenticulosutural dysplasia N/A N/A No information
Dermato-cardio-skeletal syndrome Borrone type N/A N/A No information
Eiken syndrome N/A N/A No information
FOSMN syndrome N/A N/A No information
Goldenhar disease N/A N/A No information
Gollop Coates syndrome N/A N/A No information
Grange syndrome N/A N/A No information
Kumar levick syndrome N/A N/A No information
Lichstenstein syndrome N/A N/A No information
Madelung deformity N/A N/A No information
MADSAM N/A N/A No information
Mazabraud syndrome N/A N/A No information
Mesomelic dysplasia, Savarirayan type N/A N/A No information
Metaphyseal dysplasia, Braun-Tinschert type N/A N/A No information
Morava-Mehes syndrome N/A N/A No information
Ribbing disease N/A N/A No information
Segawa Syndrome N/A N/A No information
Trigger thumb N/A N/A No information
Adult onset Still's disease N/A N/A No information
Ribbing syndrome N/A N/A No information
Salvioli syndrome N/A N/A No information
Satoyoshi syndrome 2 N/A N/A No information
Schanz disease N/A N/A No information
Schanz's syndrome N/A N/A No information
Schroder syndrome N/A N/A No information
Schwartz-Lelek syndrome N/A N/A No information
Seven point syndrome N/A N/A No information
Todd paralysis N/A N/A No information
Turpin syndrome N/A N/A No information
Skewfoot N/A N/A No information
Aarskog-Ose-Pande syndrome N/A N/A No information
Acrocapitofemoral dysplasia N/A N/A No information
Acro coxo mesomelic dysplasia N/A N/A No information
Acrofacial dysostosis autosomal recessive N/A N/A No information
Acrofacial dysostosis postaxial, atypical N/A N/A No information
Craniosynostosis Maroteaux Fonfria type N/A N/A No information
Singh-Williams-McAlister, syndrome N/A N/A No information
Stiff baby syndrome N/A N/A No information
Still's Disease, Adult-Onset N/A N/A No information
Spondyloepimetaphyseal dysplasia, genevieve type N/A N/A No information
IMAGe syndrome N/A N/A No information
Brunzell syndrome N/A N/A No information
Angio-osteohypotrophic syndrome N/A N/A No information
Bruck syndrome N/A N/A No information
Fryns macrocephaly N/A N/A No information
Verloes-Deprez syndrome N/A N/A No information
Urban rogers meyer syndrome N/A N/A No information
Whistling face syndrome, recessive form N/A N/A No information
Baraitser burn fixen syndrome N/A N/A No information
Bessel-Hagen disease N/A N/A No information
Haferkamp syndrome N/A N/A No information
Harper dwarfism N/A N/A No information
HOTS N/A N/A No information
Ives-Houston syndrome N/A N/A No information
Kashin-Bek disease N/A N/A No information
Keutel syndrome 2 N/A N/A No information
Lissauer paralysis N/A N/A No information
Lubarsch-Pick syndrome N/A N/A No information
May-White syndrome N/A N/A No information
McLetchie-Aikens syndrome N/A N/A No information
Mikaelian syndrome N/A N/A No information
Phillips-Griffiths syndrome N/A N/A No information
Cardiomelic syndrome Stratton Koehler type N/A N/A No information
Hydrocephalus -- growth retardation -- skeletal anomalies N/A N/A No information
Ruzicka-Goerz-Anton syndrome N/A N/A No information
CAMFAK syndrome N/A N/A No information
Kozlowski-Warren-Fisher syndrome N/A N/A No information
De Quervains' disease N/A N/A No information
Billet-Bear syndrome N/A N/A No information
Charlie M syndrome N/A N/A No information
Jaffer-Beighton syndrome N/A N/A No information
Anauxetic dysplasia N/A N/A No information
Distal arthrogryposis, Moore-Weaver type N/A N/A No information
Barnicoat-Baraitser syndrome N/A N/A No information
Cleidorhizomelic syndrome N/A N/A No information
Cortes-Lacassie syndrome N/A N/A No information
Escobar syndrome, type B N/A N/A No information
Lockwood-Feingold syndrome N/A N/A No information
Horn-Kolb syndrome N/A N/A No information
Ho Kaufman-Mcalister syndrome N/A N/A No information
Acrofacial dysostosis -- ambiguous genitalia N/A N/A No information
Acrorenal syndrome recessive N/A N/A No information
Bowing, congenital, short bones N/A N/A No information
Blomstrand syndrome N/A N/A No information
Dysostosis acral with facial and genital abnormalities N/A N/A No information
Langer-Nishino-Yamaguchi syndrome N/A N/A No information
Jankovic-Rivera syndrome N/A N/A No information
Blethen-Wenick-Hawkins syndrome N/A N/A No information
Christian-Demyer-Franken syndrome N/A N/A No information
Hypoplastic thumb -- mullerian aplasia N/A N/A No information
Filaminopathy, autosomal dominant N/A N/A No information
Coffin syndrome 1 N/A N/A No information
Dysostosis peripheral N/A N/A No information
Hunter-Macpherson syndrome N/A N/A No information
Kantaputra-Gorlin syndrome N/A N/A No information
Bruyn-Scheltens syndrome N/A N/A No information
Fryns-Fabry-Remans syndrome N/A N/A No information
Jones-Hersh-Yusk syndrome N/A N/A No information
Akaba-Hayasaka syndrome N/A N/A No information
Dieterich's disease N/A N/A No information
Hemihypertrophy in context of NF N/A N/A No information
Cortada-Kousseff-Matsumoto syndrome N/A N/A No information
Christian's syndrome 1 N/A N/A No information
Frints -- De Smet -- Fabry -- Fryns syndrome N/A N/A No information
Calabro syndrome N/A N/A No information
Choledochal cyst, hand malformation N/A N/A No information
Iida-Kannari syndrome N/A N/A No information
Macleod-Fraser syndrome N/A N/A No information
Campomelia Cumming type N/A N/A No information
Camptocormism N/A N/A No information
Camera-Marugo-Cohen syndrome N/A N/A No information
Bowing of long bones congenital N/A N/A No information
Hutterite cerebroosteonephrodysplasia syndrome N/A N/A No information
Acral dysostosis -- dyserythropoiesis N/A N/A No information
Franceschini-Vardeu-Guala syndrome N/A N/A No information
Baby rattle pelvic dysplasia N/A N/A No information
Landy-Donnai syndrome N/A N/A No information
Hypoplasia hepatic ductular N/A N/A No information
Congenital articular rigidity N/A N/A No information
Acanthosis nigricans muscle cramps acral enlargement N/A N/A No information
Brachioskeletogenital syndrome N/A N/A No information
Conorenal Syndrome N/A N/A No information
Cartilage-hair hypoplasia-like syndrome N/A N/A No information
Hypomelia -- mullerian duct anomalies N/A N/A No information
Acromesomelic dysplasia Campailla Martinelli type N/A N/A No information
Fraser-Jequier-Chen syndrome N/A N/A No information
Cramp-fasciculations syndrome N/A N/A No information
Cousin Walbraum Cegarra syndrome N/A N/A No information
Bone dysplasia, lethal, Holmgren type N/A N/A No information
Cerebrorenodigital syndrome with limb malformations and triradiate acetabula N/A N/A No information
Choreoacanthocytosis amyotrophic N/A N/A No information
Kozlowski-Celermajer syndrome N/A N/A No information
Koone-Rizzo-Elias syndrome N/A N/A No information
Kozlowski-Rafinski-Klicharska syndrome N/A N/A No information
Johnson-Munson syndrome N/A N/A No information
Osteochondrosis N/A N/A No information
Chondrocalcinosis due to apatite crystal deposition N/A N/A No information
Brugsch's syndrome N/A N/A No information
Brushfield-Wyatt syndrome N/A N/A No information
Alajouanine syndrome N/A N/A No information
Ashley syndrome N/A N/A No information
Bartenwerfer syndrome N/A N/A No information
Benjamin syndrome N/A N/A No information
Berndorfer syndrome N/A N/A No information
Breakdance back syndrome N/A N/A No information
Broberger-Zetterstrom syndrome N/A N/A No information
Brodie knee N/A N/A No information
Bruns-Garland syndrome N/A N/A No information
Cervenka's syndrome N/A N/A No information
Chapple syndrome N/A N/A No information
Dent-Friedman syndrome N/A N/A No information
Dreyfus syndrome N/A N/A No information
FACWA syndrome N/A N/A No information
Floppy infant syndrome N/A N/A No information
Foix-Alajouanine syndrome N/A N/A No information
Gamstorp-Wohlfart syndrome N/A N/A No information
Gerlier disease N/A N/A No information
Golden-Lakin syndrome N/A N/A No information
Gorlin-Sedano syndrome N/A N/A No information
Nguyen syndrome N/A N/A No information
Pfeiffer-Hirschfelder-Rott syndrome N/A N/A No information
Milner-Khallouf-Gibson syndrome N/A N/A No information
Maroteaux-Fonfria syndrome N/A N/A No information
Hypomandibular faciocranial dysostosis N/A N/A No information
Richieri-Costa-Silveira-Pereira syndrome N/A N/A No information
Omodysplasia -- dominant type N/A N/A No information
Panostotic fibrous dysplasia N/A N/A No information
Paroxysmal kinesigenic choreoathetosis N/A N/A No information
Myoclonus hereditary -- progressive distal muscular atrophy N/A N/A No information
Pterygium syndrome, X-linked N/A N/A No information
Miles-Carpenter X-linked mental retardation syndrome N/A N/A No information
Humerospinal dysostosis -- congenital heart disease N/A N/A No information
Short stature -- dysmorphic face -- pelvic scapula dysplasia N/A N/A No information
Megarbane syndrome N/A N/A No information
Slavotinek-Pike-Mills-Hurst syndrome N/A N/A No information
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa N/A N/A No information
Siderius type X-linked mental retardation syndrome N/A N/A No information
Saal-Bulas syndrome N/A N/A No information
Palindromic rheumatism N/A N/A No information
Michels-Caskey syndrome N/A N/A No information
Say syndrome N/A N/A No information
Marfan-like syndrome, Boileau type N/A N/A No information
Nakajo-Nishimura syndrome N/A N/A No information
Samson-Gardner syndrome N/A N/A No information
Trichoscyphodysplasia N/A N/A No information
Myoglobinuria, dominant form N/A N/A No information
Pointer syndrome N/A N/A No information
Short limb dwarfism, Al Gazali type N/A N/A No information
Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch N/A N/A No information
Marphanoid syndrome, type De Silva N/A N/A No information
Pfeiffer-Tietze-Welte syndrome N/A N/A No information
Passos-Bueno syndrome N/A N/A No information
Ansell-Bywaters-Elderking syndrome N/A N/A No information
Hyperostosis cortical infantile N/A N/A No information
Howard-Young syndrome N/A N/A No information
Myasthenic syndrome, congenital, slow-channel N/A N/A No information
Multiple synostoses syndrome 2 N/A N/A No information
Meyenburg-Altherr-Uehlinger syndrome N/A N/A No information
Nondystrophic myotonia N/A N/A No information
Rasmussen-Johnsen-Thomsen syndrome N/A N/A No information
Laplane-Fontaine-Lagardere syndrome N/A N/A No information
Melhem-Fahl syndrome N/A N/A No information
Jacobsen syndrome N/A N/A No information
Muscular fibrosis, multifocal -- obstructed vessels N/A N/A No information
Nathalie syndrome N/A N/A No information
Spondylocostal dysostosis, Dandy-Walker N/A N/A No information
Emerinopathy N/A N/A No information
Froster-Iskenius-Waterson syndrome N/A N/A No information
Pseudopapilledema -- blepharophimosis -- hand anomalies N/A N/A No information
Radio renal syndrome N/A N/A No information
Massa-Casaer-Ceulemans syndrome N/A N/A No information
Daish-Hardman-Lamont syndrome N/A N/A No information
Hapnes-Boman-Skeie syndrome N/A N/A No information
Lateral body wall complex N/A N/A No information
Ghosal syndrome N/A N/A No information
Aphalangia -- syndactyly -- microcephaly N/A N/A No information
Metatrophic dysplasia N/A N/A No information
Richieri Costa Guion Almeida Cohen syndrome N/A N/A No information
Fraser-like syndrome N/A N/A No information
Marden-Walker-like syndrome N/A N/A No information
Robin sequence and oligodactyly N/A N/A No information
Kaplan-Plauchu-Fitch syndrome N/A N/A No information
Richieri-Costa Da Silva syndrome N/A N/A No information
Say-Field-Coldwell syndrome N/A N/A No information
Auralcephalosyndactyly N/A N/A No information
Spondyloepimetaphyseal dysplasia, X linked with mental deterioration N/A N/A No information
Furlong-Kurczynski-Hennessy syndrome N/A N/A No information
Rhizomelic dysplasia Patterson Lowry type N/A N/A No information
Enchondromatosis-dwarfism-deafness N/A N/A No information
Dysharmonic skeletal maturation -- muscular fiber disproportion N/A N/A No information
Chitty-Hall-Webb syndrome N/A N/A No information
Potocki-Shaffer syndrome N/A N/A No information
Spondyloepimetaphyseal dysplasia, Missouri type N/A N/A No information
Fuhrmann syndrome N/A N/A No information
Jung-Wolff-Back-Stahl syndrome N/A N/A No information
Microcephaly -- hypergonadotropic hypogonadism -- short stature N/A N/A No information
Fontaine-Farriaux-Blanckaert syndrome N/A N/A No information
Herrmann Opitz arthrogryposis syndrome N/A N/A No information
Mousa-Al Din-Al Nassar syndrome N/A N/A No information
Rhizomelic syndrome N/A N/A No information
Impossible syndrome N/A N/A No information
Plum syndrome N/A N/A No information
Spondyloepimetaphyseal dysplasia with multiple dislocations N/A N/A No information
Osteosclerosis, abnormalities of nervous system and meninges N/A N/A No information
Developmental delay -- hypotonia extremities hypertrophy N/A N/A No information
Craniodigital syndrome -- mental retardation N/A N/A No information
Polyostotic osteolytic dysplasia, hereditary expansile N/A N/A No information
Tetraamelia -- multiple malformations N/A N/A No information
Goldblatt-Viljoen syndrome N/A N/A No information
Mononen-Karnes-Senac syndrome N/A N/A No information
Diphallus -- rachischisis -- imperforate anus N/A N/A No information
Oculo skeletal renal syndrome N/A N/A No information
Metaphyseal acroscyphodysplasia N/A N/A No information
Hyperphalangism -- dysmorphy -- bronchomalacia N/A N/A No information
Axial mesodermal dysplasia spectrum N/A N/A No information
Short limb dwarf lethal, Mcalister Crane type N/A N/A No information
Eng Strom syndrome N/A N/A No information
Talipes equinovarus N/A N/A No information
Thoracolimb dysplasia, Rivera type N/A N/A No information
Czeizel-Losonci syndrome N/A N/A No information
Costocoracoid ligament, congenitally short N/A N/A No information
Manouvrier syndrome N/A N/A No information
Powell-Venencie-Gordon syndrome N/A N/A No information
Shoulder and thorax deformity, congenital heart disease N/A N/A No information
Symphalangism with multiple anomalies of hands and feet N/A N/A No information
Thanatophoric dysplasia, Glasgow variant N/A N/A No information
Facioskeletalgenital syndrome, Rippberger type N/A N/A No information
Santos-Mateus-Leal syndrome N/A N/A No information
Arnold Stickler Bourne syndrome N/A N/A No information
Imaizumi Kuroki syndrome N/A N/A No information
Fanconi-ichthyosis-dysmorphism N/A N/A No information
Dermatocardioskeletal syndrome, Boronne type N/A N/A No information
Petit-Fryns syndrome N/A N/A No information
Snyder-Robinson syndrome N/A N/A No information
Dennis-Fairhurst-Moore syndrome N/A N/A No information
Spondyloepimetaphyseal dysplasia, X-linked N/A N/A No information
Tetraamelia with pulmonary hypoplasia N/A N/A No information
Johnston Aarons Schelley syndrome N/A N/A No information
Stratton-Parker syndrome N/A N/A No information
Temtamy preaxial brachydactyly syndrome N/A N/A No information
Faciocardiomelic dysplasia, lethal N/A N/A No information
TRAPS (TNF-receptor-associated periodic syndrome) N/A N/A No information
Saito-Kuba-Tsuruta syndrome N/A N/A No information
McLain-Dekaban syndrome N/A N/A No information
Pseudoachondroplastic dysplasia 2 N/A N/A No information
Mesomelia N/A N/A No information
Omodysplasia type 1 N/A N/A No information
Spondyloepimetaphyseal dysplasia, Irapa type N/A N/A No information
Tollner-Horst-Manzke syndrome N/A N/A No information
Dysplastic cortical hyperostosis N/A N/A No information
Lactate dehydrogenase deficiency type B N/A N/A No information
Fibromatosis multiple non ossifying N/A N/A No information
Kozlowski-Brown-Hardwick syndrome N/A N/A No information
Morse-Rawnsley-Sargent syndrome N/A N/A No information
Ray-Peterson-Scott syndrome N/A N/A No information
Buntinx-Lormans-Martin syndrome N/A N/A No information
Spondyloperipheral dysplasia -- short ulna N/A N/A No information
Selig-Benacerraf-Greene syndrome N/A N/A No information
Singh-Chhaparwal-Dhanda syndrome N/A N/A No information
Maroteaux-Verloes-Stanescu syndrome N/A N/A No information
Herrmann-Opitz craniosynostosi N/A N/A No information
Patterson-Stevenson syndrome N/A N/A No information
Fryns-Smeets-Thiry syndrome N/A N/A No information
Macrophagic myofasciitis N/A N/A No information
Trigonocephaly -- bifid nose -- acral anomalies N/A N/A No information
FACES syndrome N/A N/A No information
Cyprus facial neuromusculoskeletal syndrome N/A N/A No information
Arima syndrome N/A N/A No information
ECP syndrome N/A N/A No information
Daneman Davy Mancer syndrome N/A N/A No information
Ischiopatellar dysplasia N/A N/A No information
Spondyloepimetaphyseal dysplasia joint laxity N/A N/A No information
Raine syndrome N/A N/A No information
SCARF syndrome N/A N/A No information
Fried-Goldberg-Mundel syndrome N/A N/A No information
Mental retardation -- hip luxation -- G6PD variant N/A N/A No information
Powell-Chandra-Saal syndrome N/A N/A No information
Short stature -- prognathism -- short femoral necks N/A N/A No information
Joint laxity, familial N/A N/A No information
Symphalangism distal N/A N/A No information
Epiphyseal stippling syndrome -- osteoclastic hyperplasia N/A N/A No information
Oculo cerebro acral syndrome N/A N/A No information
Frias syndrome N/A N/A No information
Peptidic growth factors deficiency N/A N/A No information
Steinfeld syndrome N/A N/A No information
Medrano-Roldan syndrome N/A N/A No information
Bahemuka Brown syndrome N/A N/A No information
Sacrococcygeal dysgenesis association N/A N/A No information
Familial opposable triphalangeal thumbs duplication N/A N/A No information
Oslam syndrome N/A N/A No information
Stoll-Alembik-Finck syndrome N/A N/A No information
Furukawa-Takagi-Nakao syndrome N/A N/A No information
Oto-Palatal-digital syndrome N/A N/A No information
TAU syndrome N/A N/A No information
McDonough syndrome N/A N/A No information
Seghers syndrome N/A N/A No information
Vertebral fusion- posterior lumbrosacral, blepharoptosis N/A N/A No information
GEMSS syndrome N/A N/A No information
Trigonocephaly -- broad thumbs N/A N/A No information
Opthalmo acromelic syndrome N/A N/A No information
Astley-Kendall syndrome N/A N/A No information
Kasznica-Carlson-Coppedge syndrome N/A N/A No information
Tukel syndrome N/A N/A No information
Reardon-Hall-Slaney syndrome N/A N/A No information
Fernhoff-Blackston-Oakley syndrome N/A N/A No information
Edinburgh malformation syndrome N/A N/A No information
Spondyloepimetaphyseal dysplasia with hypotrichosis N/A N/A No information
Freire-Maia odontotrichomelic syndrome N/A N/A No information
Kennerknecht-Vogel syndrome N/A N/A No information
Culler-Jones syndrome N/A N/A No information
Collins-Pope syndrome N/A N/A No information
Davenport-Donlan syndrome N/A N/A No information
Sommer-Hines syndrome N/A N/A No information
Teebi-Shaltout syndrome N/A N/A No information
Tsukuhara syndrome N/A N/A No information
Engelhard-Yatziv syndrome N/A N/A No information
Faye-Petersen-Ward-Carey syndrome N/A N/A No information
Coxoauricular syndrome N/A N/A No information
Matsoukas-Liarikos-Giannika syndrome N/A N/A No information
Treft-Sanborn-Carey syndrome N/A N/A No information
Kennerknecht-Sorgo-Oberhoffer syndrome N/A N/A No information
Garret-Tripp syndrome N/A N/A No information
Satoyoshi syndrome N/A N/A No information
Short stature -- hyperkaliemia -- acidosis N/A N/A No information
Fitzsimmons-McLachlan-Gilbert syndrome N/A N/A No information
Pilo dento ungular dysplasia -- microcephaly N/A N/A No information
Jorgenson-Lenz syndrome N/A N/A No information
Fryns-Hofkens-Fabry syndrome N/A N/A No information
Kaler-Garrity-Stern syndrome N/A N/A No information
Okamuto Satomura syndrome N/A N/A No information
Kosztolanyi syndrome N/A N/A No information
Grix-Blankenship-Peterson syndrome N/A N/A No information
Stoll-Levy-Fancfort syndrome N/A N/A No information
Schmitt-Gillenwater-Kelly syndrome N/A N/A No information
Arthritis -- short stature -- deafness N/A N/A No information
Synovial osteochondromatosis N/A N/A No information
Spranger-Schinzel-Myers syndrome N/A N/A No information
Rhizomelic pseudopolyarthritis N/A N/A No information
Osteopathia condensans disseminata with osteopoikilosis N/A N/A No information
Marfan-Like syndrome N/A N/A No information
Houlston-Ironton-Temple syndrome N/A N/A No information
Simosa craniofacial syndrome N/A N/A No information
Omodysplasia N/A N/A No information
Sandhaus Ben-Ami syndrome N/A N/A No information
Hoon-Hall syndrome N/A N/A No information
Pallidopyramidal syndrome N/A N/A No information
Renier-Gabreels-Jasper syndrome N/A N/A No information
Sallis-Beighton syndrome N/A N/A No information
Podder-Tolmie syndrome N/A N/A No information
Dejerine-Klumpke syndrome N/A N/A No information
Berk-Tabatznik syndrome N/A N/A No information
Illum syndrome N/A N/A No information
Cushing's symphalangism N/A N/A No information
Axial osteosclerosis N/A N/A No information
Ziehen-Oppenheim syndrome N/A N/A No information
Puretic syndrome N/A N/A No information
Osteopoikilosis N/A N/A No information
Lanzietri syndrome N/A N/A No information
Rosenberg-Lohr syndrome N/A N/A No information
Emery-Nelson syndrome N/A N/A No information
Dysosteosclerosis N/A N/A No information
Holzgreve-Wagner-Rehder syndrome N/A N/A No information
Lowry syndrome N/A N/A No information
Rolland-Desbuquois syndrome N/A N/A No information
Multiple synostoses syndrome 1 N/A N/A No information
Piussan-Lenaert-Mathieu syndrome N/A N/A No information
Brachyrachia N/A N/A No information
Pseudoaminopterin syndrome N/A N/A No information
Erdheim disease II N/A N/A No information
Pallister-Ulnar mammary syndrome N/A N/A No information
Lowry-Wood syndrome N/A N/A No information
Idiopathic intestinal pseudoobstruction N/A N/A No information
Acrofacial dysostosis Rodriguez type N/A N/A No information
Coxa vara, congenital N/A N/A No information
Acromesomelic dysplasia Brahimi Bacha type N/A N/A No information
Allain Babin Demarquez syndrome N/A N/A No information
Albright like syndrome N/A N/A No information
Ampola syndrome N/A N/A No information
Al Awadi syndrome N/A N/A No information
Acromesomelic dysplasia Hunter Thompson type N/A N/A No information
Camptobrachydactyly N/A N/A No information
Genu varum N/A N/A No information
Acrofacial dysostosis Catania form N/A N/A No information
ADULT syndrome N/A N/A No information
Acrofacial dysostosis, Palagonia type N/A N/A No information
Thanatophoric dysplasia N/A N/A 1 per 20,000 - 50,000 newborns are affected by Thanatophoric dysplasia, Genetics Home Reference website
Buttiens-Fryns syndrome N/A N/A No information
Chondrocalcinosis familial articular N/A N/A No information
Bassoe syndrome N/A N/A No information
Boylan-Dew-Greco syndrome N/A N/A No information
Carnevale-Hernandez-Castillo syndrome N/A N/A No information
Crisponi syndrome N/A N/A No information
Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus N/A N/A No information
Bazopoulou-Kyrkanidou syndrome N/A N/A No information
Blount disease N/A N/A No information
Beardwell syndrome N/A N/A No information
Brachycephalofrontonasal dysplasia N/A N/A No information
Bellini-Chiumello-Rinoldi syndrome N/A N/A No information
Chitty Hall Baraitser syndrome N/A N/A No information
Dwarfism -- stiff joint -- ocular abnormalities N/A N/A No information
Dwarfism -- syndesmodysplasic N/A N/A No information
Brittle bone syndrome lethal type N/A N/A No information
Chitayat Meunier Hodgkinson syndrome N/A N/A No information
Lumbar malsegmentation -- short stature N/A N/A No information
Sacral agenesis N/A N/A No information
Game-Friedman-Paradice syndrome N/A N/A No information
Gurrieri-Sammito-Bellussi syndrome N/A N/A No information
Lower limb anomaly -- ureteral obstruction N/A N/A No information
Thin ribs -- tubular bones -- dysmorphism N/A N/A No information
Fitzsimmons-Guilbert syndrome N/A N/A No information
Roy-Maroteaux-Kremp syndrome N/A N/A No information
Diomedi-Bernardi-Placidi syndrome N/A N/A No information
Craniotelencephalic dysplasia N/A N/A No information
Maroteaux-Stanescu-Cousin syndrome N/A N/A No information
Saul-Wilkes-Stevenson syndrome N/A N/A No information
Konigsmark-Knox-Hussels syndrome N/A N/A No information
Kurczynski-Casperson syndrome N/A N/A No information
Le Marec-Bracq-Picaud syndrome N/A N/A No information
Opitz-Reynolds-Fitzgerald syndrome N/A N/A No information
Faciocardiorenal syndrome N/A N/A No information
Boucher-Neuhauser syndrome N/A N/A No information
Nasodigitoacoustic syndrome N/A N/A No information
Osteopathia striata, cranial sclerosis N/A N/A No information
Cote-Katsantoni syndrome N/A N/A No information
Seemanova-Lesny syndrome N/A N/A No information
Desbuquois syndrome N/A N/A No information
Synovitis granulomatous with uveitis and cranial neuropathies, familial N/A N/A No information
Lujan-Fryns syndrome N/A N/A No information
Reese-Ellsworth syndrome N/A N/A No information
Adrenomyodystrophy N/A N/A No information
Syndactyly, Cenani Lenz type N/A N/A No information
Forney Robinson Pascoe syndrome N/A N/A No information
Erdheim disease I N/A N/A No information
Diaphyseal aclasis N/A N/A No information
Acrofacial dysostosis, Weyers type N/A N/A No information
Ballard syndrome N/A N/A No information
Sheffield syndrome N/A N/A No information
Osteoporosis-pseudoglioma syndrome N/A N/A No information
Camptomelic dysplasia I N/A N/A No information
Cortical hyperostosis-syndactyly N/A N/A No information
Banki syndrome N/A N/A No information
Albers-Schonberg disease -- Adult benign dominant form N/A N/A No information
Acrorenal mandibular syndrome N/A N/A No information
Lambert syndrome N/A N/A No information
Kniest-like dysplasia lethal N/A N/A No information
Oncogenic hypophosphatemic osteomalacia N/A N/A No information
Marsden syndrome N/A N/A No information
Small syndrome N/A N/A No information
Di Mauro-Hartlage syndrome N/A N/A No information
Karsch-Neugenbauer syndrome N/A N/A No information
SAPHO syndrome N/A N/A No information
Grant syndrome N/A N/A No information
Fairbank disease N/A N/A No information
Becker disease N/A N/A No information
Touraine-Solente-Gole syndrome N/A N/A No information
Erb-Goldflam N/A N/A No information
Kohler disease N/A N/A No information
Hyperostosis frontalis interna N/A N/A No information
Sulfatidosis juvenile, Austin type N/A N/A No information
Kocher-Debre-Semelaigne syndrome N/A N/A No information
Cranioectodermal dysplasia N/A N/A No information
Leigh syndrome, French Canadian type N/A N/A No information
Meige syndrome N/A N/A No information
Craniodiaphyseal dysplasia N/A N/A No information
Ruvalcaba syndrome N/A N/A No information
Dysplasia epiphysealis hemimelica N/A N/A No information
Kohler syndrome N/A N/A No information
Bartsocas Papa syndrome N/A N/A No information
Juberg-Marsidi syndrome N/A N/A No information
Sprengel deformity N/A N/A No information
W syndrome N/A N/A No information
Gorham's syndrome N/A N/A No information
Mietens syndrome N/A N/A No information
Juberg-Hayward syndrome N/A N/A No information
Andersen-Tawil syndrome N/A N/A 100 people have been reported with Andersen-Tawil syndrome worldwide, Genetics Home Reference
Levine-Critchley syndrome N/A N/A No information
Scott syndrome N/A N/A No information
Roberts syndrome N/A N/A No information
Potassium aggravated myotonia N/A N/A only a few cases of potassium aggravated myotonia have been reported worldwide, Genetics Home Reference website
Strudwick syndrome N/A N/A only a few cases of the condition have been reported, Genetics Home Reference website
Congenital myasthenic syndrome with episodic apnea N/A N/A No information
Rubinstein-Taybi like syndrome N/A N/A No information
Parsonage Turner syndrome N/A N/A No information
Wilkes Stevenson syndrome N/A N/A No information
Ventruto Digirolamo Festa syndrome N/A N/A No information
Winter Shortland Temple syndrome N/A N/A No information
Zori Stalker Williams syndrome N/A N/A No information
Whyte Murphy Syndrome N/A N/A No information
Weleber Hecht Bigley syndrome N/A N/A No information
Yim Ebbin syndrome N/A N/A No information
Verloes-David Syndrome N/A N/A No information
Wiedemann Oldigs Oppermann syndrome N/A N/A No information
Willems De vries syndrome N/A N/A No information
Viljone Kallis Voges syndrome N/A N/A No information
Verloove Vanhorick Brubakk syndrome N/A N/A No information
Verloes Bourguignon syndrome N/A N/A No information
Walbaum Titran Durieux Crepin syndrome N/A N/A No information
Worster Drought syndrome N/A N/A No information
Wallerian degeneration N/A N/A No information
Westphal disease N/A N/A No information
Von voss Cherstvoy syndrome N/A N/A No information
Vertical talus, congenital N/A N/A No information
Waaler Aarskog syndrome N/A N/A No information
Verloes Van Maldergem Marneffe syndrome N/A N/A No information
WT limb blood syndrome N/A N/A No information
Winter Harding Hyde syndrome N/A N/A No information
Wells Jankovic syndrome N/A N/A No information
Worth syndrome N/A N/A No information
Zlotogora syndrome N/A N/A No information
Weaver Johnson syndrome N/A N/A No information
Warman Mulliken Hayward syndrome N/A N/A No information
Wegmann Jones Smith syndrome N/A N/A No information
Zerres Rietschel Majewski syndrome N/A N/A No information
Wolcott-Rallison syndrome N/A N/A No information
Schneckenbecken dysplasia N/A N/A No information
Dermatoosteolysis, Kirghizian type N/A N/A No information
Achard syndrome N/A N/A No information
Elejalde syndrome N/A N/A No information
Amyoplasia N/A N/A No information
Albers-Schonberg disease -- intermediate form N/A N/A No information
Boomerang dysplasia N/A N/A No information
Beemer-Langer syndrome N/A N/A No information
Crane-Heise syndrome N/A N/A No information
Amyotonia congenita N/A N/A No information
Oculomelic amyoplasia N/A N/A No information
Bencze syndrome N/A N/A No information
Sandifer syndrome N/A N/A No information
Sillence syndrome N/A N/A No information
Albers-Schonberg disease -- malignant recessive form N/A N/A No information
Rapadilino syndrome N/A N/A No information
Parastremmatic dwarfism N/A N/A No information
Metachondromatosis N/A N/A No information
Ivic Syndrome N/A N/A No information
Lundberg II syndrome N/A N/A No information
Kuskokwim disease N/A N/A No information
Fazio-Londe syndrome N/A N/A No information
Pfeiffer-Palm-Teller syndrome N/A N/A No information
Herrmann syndrome N/A N/A No information
Koller syndrome N/A N/A No information
Lewis (F.) syndrome N/A N/A No information
Leschke-Ullmann syndrome N/A N/A No information
King-Denborough syndrome N/A N/A No information
Keutel syndrome N/A N/A No information
Pillay syndrome N/A N/A No information
Thanos syndrome N/A N/A No information
Loewenthal syndrome N/A N/A No information
Osteoglophonic dwarfism N/A N/A No information
Nievergelt syndrome N/A N/A No information
Foix-Chavany-Marie syndrome N/A N/A No information
Currarino-Silverman N/A N/A No information
Hip dysplasia, Beukes type N/A N/A No information
Mesomelic dwarfism Reinhardt-Pfeiffer type N/A N/A No information
Opsismodysplasia N/A N/A No information
Pseudodiastrophic dysplasia N/A N/A No information
Stanescu syndrome N/A N/A No information
Sponastrime dysplasia N/A N/A No information
Frontometaphyseal dysplasia N/A N/A No information
Krause-Kivlin syndrome N/A N/A No information
Cervicooculoacoustic syndrome N/A N/A No information
Amyoplasia congenital disruptive sequence N/A N/A No information
Craniometaphyseal dysplasia dominant type N/A N/A No information
Oromandibular-limb hypogenesis spectrum N/A N/A No information
Lenz Majewski hyperostotic dwarfism N/A N/A No information
Focal dermal hypoplasia N/A N/A No information
Distal arthrogryposis syndrome N/A N/A No information
Sirenomelia N/A N/A No information
Femoral facial syndrome N/A N/A No information
Craniometaphyseal dysplasia, autosomal recessive type N/A N/A No information
EEC syndrome N/A N/A No information
Fibrochondrogenesis N/A N/A No information
Grebe Syndrome N/A N/A No information
Beals syndrome N/A N/A No information
Hecht syndrome N/A N/A No information
Geleophysic dwarfism N/A N/A No information
Limb-body wall complex N/A N/A No information
TDO type II N/A N/A No information
Blepharophimosis, ptosis, epicanthus inversus N/A N/A No information
Kniest dysplasia N/A N/A No information
Jeune syndrome N/A N/A No information
Nevus sebaceous of Jadassohn N/A N/A No information
TAR syndrome N/A N/A No information
Oculodentodigital syndrome N/A N/A No information
Spherophakia brachymorphia syndrome N/A N/A No information
Van der Woude syndrome N/A N/A No information
CHILD syndrome ichthyosis N/A N/A No information
Acrofacial dysostosis, Nager type N/A N/A No information
Aneurysmal bone cysts N/A N/A No information
Hydrolethalus syndrome N/A N/A No information
Silver-Russell dwarfism N/A N/A No information
Acrofacial dysostosis atypical postaxial N/A N/A No information
Pycnodysostosis N/A N/A No information
I cell disease N/A N/A No information
Craniosynostosis radial aplasia syndrome N/A N/A No information
Van der Woude syndrome 2 N/A N/A No information
Van Maldergem Wetzburger Verloes syndrome N/A N/A No information
Urogenital adysplasia N/A N/A No information
Van Goethem syndrome N/A N/A No information
Vasquez Hurst Sotos syndrome N/A N/A No information
Urogenital adysplasia, hereditary N/A N/A No information
Van Buchem disease type 2 N/A N/A No information
Venencie Powell Winkelmann syndrome N/A N/A No information
Upton Young syndrome N/A N/A No information
Van Regemorter Pierquin Vamos syndrome N/A N/A No information
Van De Berghe Dequeker syndrome N/A N/A No information
Upington disease N/A N/A No information
Van den Bosch syndrome N/A N/A No information
Beare-Stevenson cutis gyrata syndrome N/A N/A No information
Behr syndrome N/A N/A No information
Wieacker syndrome N/A N/A No information
MSBD syndrome N/A N/A No information
Sakati syndrome N/A N/A No information
Pseudophosphatasia N/A N/A No information
Muenke Syndrome N/A N/A estimated 1 per 30,000 newborns suffer from Muenke syndrome, Genetics Home Reference website
Oculo-dento-digital dysplasia dominant N/A N/A No information
Melorheostosis N/A N/A No information
Riley Shwachman syndrome N/A N/A No information
Acro-reno-ocular syndrome N/A N/A No information

Types of Musculoskeletal conditions

For more information about types of Musculoskeletal conditions, refer to our section on types of Musculoskeletal conditions. See also more information on death information for Musculoskeletal conditions.

 

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