This section presents information about the death rate statistics
for the various types of Bone conditions.
Disease | Death Rate Estimate | US deaths estimate | Statistic Used for Calculation |
| Fractures |
unavailable |
|
No information
|
| Bone Marrow Conditions |
N/A |
N/A |
No information
|
| Joint Conditions |
N/A |
N/A |
nearly 43 Americans have arthritis or a rheumatic disease (CDC); 40 million people in the United States (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)
|
| Avascular necrosis |
N/A |
N/A |
No information
|
| Growth plate injuries |
N/A |
N/A |
No information
|
| McCune-Albright Syndrome |
N/A |
N/A |
No information
|
| Ankle fracture |
N/A |
N/A |
No information
|
| Arm fracture |
N/A |
N/A |
No information
|
| Autoimmune Myelopathy |
N/A |
N/A |
No information
|
| Bone cancer |
unavailable |
|
No information
|
| Chondrosarcoma |
N/A |
N/A |
No information
|
| Ewing's sarcoma |
N/A |
N/A |
No information
|
| Face fracture |
N/A |
N/A |
No information
|
| Foot fracture |
N/A |
N/A |
No information
|
| Fractured femur |
N/A |
N/A |
No information
|
| Fractured Lower Leg |
N/A |
N/A |
No information
|
| Hand fracture |
N/A |
N/A |
No information
|
| Heel spur |
N/A |
N/A |
No information
|
| Hyperparathyroidism |
N/A |
N/A |
No information
|
| Legg-Calve-Perthes disease |
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
|
| Mastoiditis |
N/A |
N/A |
No information
|
| Multiple Myeloma |
approx 1 in 4,317 or 0.02% or 63,000 people in USA |
about 63,000 people affected by multiple myeloma ("Orphan Products: Hope for People With Rare Diseases", By Carol Rados, FDA Consumer magazine, November-December 2003 Issue) |
about 63,000 people affected by multiple myeloma ("Orphan Products: Hope for People With Rare Diseases", By Carol Rados, FDA Consumer magazine, November-December 2003 Issue)
|
| Neurofibromatosis-1 |
N/A |
N/A |
1 per 3,000 - 4,000 people suffer from neurofibromatosis type 1 worldwide, Genetics Home Reference website
|
| Osteochondritis Dissecans |
N/A |
N/A |
No information
|
| Osteochondroma |
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
|
| Osteoid Osteoma |
N/A |
N/A |
No information
|
| Osteoma |
N/A |
N/A |
No information
|
| Osteomyelitis |
N/A |
N/A |
No information
|
| Pelvic fracture |
N/A |
N/A |
No information
|
| Renal osteodystrophy |
N/A |
N/A |
No information
|
| Rib fracture |
N/A |
N/A |
No information
|
| Sarcoma |
N/A |
N/A |
No information
|
| Skull fracture |
N/A |
N/A |
No information
|
| Slipped epiphysis |
N/A |
N/A |
No information
|
| Vertebral fracture |
N/A |
N/A |
No information
|
| Osteosarcoma of the breast |
N/A |
N/A |
No information
|
| Metastatic bone cancer |
N/A |
N/A |
No information
|
| Primary bone cancer |
N/A |
N/A |
No information
|
| Osteosarcoma |
N/A |
N/A |
No information
|
| Secondary Bone Cancer |
N/A |
N/A |
No information
|
| Hip cancer |
N/A |
N/A |
No information
|
| Rib Tumor |
N/A |
N/A |
No information
|
| Chondrosarcoma (malignant) |
N/A |
N/A |
No information
|
| Broken finger |
N/A |
N/A |
No information
|
| Broken foot |
N/A |
N/A |
No information
|
| Broken hand |
N/A |
N/A |
No information
|
| Broken jaw |
N/A |
N/A |
No information
|
| Broken leg |
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 Fracture |
N/A |
N/A |
No information
|
| Broken Collarbone |
N/A |
N/A |
No information
|
| Adolescent idiopathic scoliosis |
N/A |
N/A |
No information
|
| Broken neck |
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
|
| Idiopathic adolescent scoliosis |
N/A |
N/A |
No information
|
| Adamantinoma |
N/A |
N/A |
No information
|
| Deafness -- cataracts -- skeletal anomalies |
N/A |
N/A |
No information
|
| Myopathy, limb-girdle, with bone fragility |
N/A |
N/A |
No information
|
| 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
|
| 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
|
| 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.
|
| 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
|
| 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
|
| 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
|
| Bone pain |
N/A |
N/A |
No information
|
| Ankle Osteoarthritis |
N/A |
N/A |
No information
|
| Secondary chondrosarcoma |
N/A |
N/A |
No information
|
| Erdheim-Chester Disease |
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
|
| Tibial Fractures |
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
|
| 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
|
| 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 tibia |
N/A |
N/A |
No information
|
| Absence of tibia with polydactyly |
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, progeroid form 2 |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome, arthrochalasic type |
N/A |
N/A |
No information
|
| Ehlers-Danlos syndrome type IX |
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
|
| Osgood Schlatter Condition |
N/A |
N/A |
No information
|
| Polydactyly preaxial |
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
|
| Osteogenesis imperfecta, Type VI |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta -- congenital joint contractures |
N/A |
N/A |
No information
|
| 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
|
| Orthopedic disorders |
N/A |
N/A |
149 per 1000 - NHIS95
|
| Knock knees |
N/A |
N/A |
No information
|
| Osteochondroses |
N/A |
N/A |
No information
|
| Gigantism |
N/A |
N/A |
No information
|
| Primary chondrosarcoma |
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
|
| Craniosynostosis |
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
|
| Preaxial deficiency, postaxial polydactyly and hypospadias |
N/A |
N/A |
No information
|
| Preaxial deficiency postaxial polydactyly hypospadias |
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
|
| 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
|
| Brachydactyly -- mesomelia -- mental retardation -- heart defects |
N/A |
N/A |
No information
|
| Extrasystoles -- short stature -- hyperpigmentation -- microcephaly |
N/A |
N/A |
No information
|
| Polydactyly -- myopia syndrome |
N/A |
N/A |
No information
|
| Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity |
N/A |
N/A |
No information
|
| Mental retardation, X-linked with brachydactyly and macroglossia |
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
|
| Hypoplastic thumbs -- hydranencephaly |
N/A |
N/A |
No information
|
| Deafness -- goiter -- stippled epiphyses |
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
|
| 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
|
| Microcephaly -- sparse hair -- mental retardation -- seizures |
N/A |
N/A |
No information
|
| Deafness conductive -- ptosis -- skeletal anomalies |
N/A |
N/A |
No information
|
| Deafness -- skeletal dysplasia -- lip granuloma |
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
|
| Craniosynostosis -- Dandy-Walker -- Hydrocephalus |
N/A |
N/A |
No information
|
| Mental retardation -- osteosclerosis |
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
|
| 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
|
| 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
|
| Unusual facies, macrocephaly, aplasia of corpus callosum, seizures, hypertrichosis, claw hands and overlapping fingers |
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
|
| Premature chromosome condensation with microcephaly and mental retardation |
N/A |
N/A |
No information
|
| Spinal muscular atrophy, type I, with congenital bone fractures |
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
|
| Bowed legs |
N/A |
N/A |
No information
|
| Ortolani's sign |
N/A |
N/A |
No information
|
| Battle's sign |
N/A |
N/A |
No information
|
| Barrel chest |
N/A |
N/A |
No information
|
| Fibrous Dysplasia |
N/A |
N/A |
No information
|
| Sternal malformation vascular dysplasia association |
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
|
| Fibular aplasia |
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
|
| Rothmund-Thomson Syndrome |
N/A |
N/A |
No information
|
| Aniridia -- absent patella |
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
|
| Oculoauriculovertebral (OAV) dysplasia |
N/A |
N/A |
No information
|
| Goldenhar Syndrome |
N/A |
N/A |
No information
|
| Jackson-Weiss Syndrome |
N/A |
N/A |
No information
|
| Branchio-skeleto-genital syndrome |
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
|
| Split hand -- split foot |
N/A |
N/A |
No information
|
| Split hand -- split foot -- deafness |
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
|
| 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
|
| 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
|
| Microcephaly with normal intelligence, immunodeficiency |
N/A |
N/A |
No information
|
| Synostoses, tarsal, carpal, and digital |
N/A |
N/A |
No information
|
| Ewing's family of tumors |
N/A |
N/A |
No information
|
| Epilepsy -- microcephaly -- skeletal dysplasia |
N/A |
N/A |
No information
|
| Bone dysplasia with medullary fibrosarcoma |
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
|
| 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
|
| 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
|
| Brachymetatarsus IV |
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
|
| 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
|
| 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
|
| Insulin resistance, short fifth metacarpals |
N/A |
N/A |
No information
|
| Microcephaly, primary autosomal recessive, 7 |
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
|
| Radioulnar synostosis mental retardation hypotonia |
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
|
| 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
|
| Adams-Oliver 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
|
| 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 -- osteoporosis |
N/A |
N/A |
No information
|
| Cutis Laxa with Bone Dystrophy |
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
|
| Epiphyseal dysplasia dysmorphism camptodactyly |
N/A |
N/A |
No information
|
| Osteosclerosis -- ichthyosis -- premature ovarian failure |
N/A |
N/A |
No information
|
| Radial deficiency tibial hypoplasia |
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
|
| 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
|
| 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
|
| Ischio-spinal dysostosis |
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
|
| 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
|
| Osteosclerosis with ichtyhosis and premature ovarian failure |
N/A |
N/A |
No information
|
| Spondylometaphyseal dysplasia with dentinogenesis imperfecta |
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
|
| Cerebro-facio-thoracic dysplasia |
N/A |
N/A |
No information
|
| Craniosynostosis Fontaine type |
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
|
| Sacral defect and anterior sacral meningocele |
N/A |
N/A |
No information
|
| Atlanto-Axial Fusion |
N/A |
N/A |
No information
|
| Osteoporosis -- macrocephaly -- mental retardation -- blindness |
N/A |
N/A |
No information
|
| Skeletal dysplasia -- mental retardation |
N/A |
N/A |
No information
|
| Dialysis osteomalacia syndrome |
N/A |
N/A |
No information
|
| Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia |
N/A |
N/A |
No information
|
| Diffuse idiopathic skeletal hyperostosis |
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
|
| Humeroradioulnar synostosis |
N/A |
N/A |
No information
|
| Hyperparathyroidism, neonatal severe primary |
N/A |
N/A |
No information
|
| Oncogenic osteomalacia |
N/A |
N/A |
No information
|
| Lymphoblastic lymphoma |
N/A |
N/A |
No information
|
| Wilms tumor and radial bilateral aplasia |
N/A |
N/A |
No information
|
| Periosteal chondrosarcoma |
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
|
| Microcephaly -- mental retardation -- spasticity -- epilepsy |
N/A |
N/A |
No information
|
| Multiple joint dislocations -- metaphyseal dysplasia |
N/A |
N/A |
No information
|
| Pseudohermaphroditism, female -- skeletal anomalies |
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
|
| Congenital heart disease -- radio ulnar synostosis -- mental retardation |
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
|
| Corpus callosum, agenesis of, blepharophimosis Robin type |
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
|
| Mandibuloacral dysplasia with type B lipodystrophy |
N/A |
N/A |
No information
|
| Childhood hypophosphatasia |
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
|
| 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
|
| Craniosynostosis contractures cleft |
N/A |
N/A |
No information
|
| Avascular necrosis of femoral head, familial form |
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
|
| 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
|
| 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
|
| Microcephaly with chorioretinopathy, autosomal dominant form |
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
|
| Transverse limb deficiency -- hemangioma |
N/A |
N/A |
No information
|
| Carpotarsal osteochondromatosis |
N/A |
N/A |
No information
|
| Juvenile osteoporosis |
N/A |
N/A |
No information
|
| Infantile recurrent chronic multifocal osteomyolitis |
N/A |
N/A |
No information
|
| Achondroplasia |
N/A |
N/A |
No information
|
| Congenital pseudoarthrosis |
N/A |
N/A |
No information
|
| Edward Syndrome |
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
|
| Microcephaly |
N/A |
N/A |
rare
|
| Chondrodysplasia punctata with steroid sulfatase deficiency |
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
|
| Ichthyosis -- deafness -- mental retardation -- skeletal anomaly |
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
|
| Plagiocephaly |
N/A |
N/A |
No information
|
| Positional plagiocephaly |
N/A |
N/A |
No information
|
| Bennett fracture |
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
|
| Infantile multisystem inflammatory disease |
N/A |
N/A |
No information
|
| Vitamin D resistant rickets |
N/A |
N/A |
No information
|
| Cerebellar atrophy with progressive microcephaly |
N/A |
N/A |
No information
|
| Solitary Plasmacytoma of Bone |
N/A |
N/A |
No information
|
| Chondroblastoma (benign) |
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
|
| Cartilaginous neoplasms |
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
|
| Langerhans Cell Histiocytosis |
N/A |
N/A |
No information
|
| Multicentric reticulohistiocytosis |
N/A |
N/A |
No information
|
| Histiocytosis, Non-Langerhans-Cell |
N/A |
N/A |
No information
|
| Methylmalonic aciduria -- microcephaly -- cataract |
N/A |
N/A |
No information
|
| Intrauterine growth retardation -- metaphyseal dysplasia -- adrenal hypoplasia congenita -- genital anomalies |
N/A |
N/A |
No information
|
| Van Bogaert-Hozay 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
|
| 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
|
| Split-Hand/Foot Malformation with Long Bone Deficiency 3 |
N/A |
N/A |
No information
|
| Split-Hand/Foot Malformation with Long Bone Deficiency 2 |
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
|
| Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis |
N/A |
N/A |
No information
|
| Solitary plasmacytoma |
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
|
| 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
|
| Microcephaly-Faciocardioskeletal syndrome |
N/A |
N/A |
No information
|
| Zechi-Ceide Syndrome |
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
|
| Split-hand deformity |
N/A |
N/A |
No information
|
| Split Hand/Split Foot Malformation |
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
|
| 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
|
| Overgrowth radial ray defect arthrogryposis |
N/A |
N/A |
No information
|
| Mastroiacovo de rosa satta syndrome |
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
|
| 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
|
| 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
|
| Cataract skeletal anomalies |
N/A |
N/A |
No information
|
| Gigantism advanced bone age hoarse cry |
N/A |
N/A |
No information
|
| Multiple vertebral anomalies unusual facies |
N/A |
N/A |
No information
|
| Chondroma |
N/A |
N/A |
No information
|
| Lawrence-Seuo syndrome |
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
|
| Mental mixed retardation deafnes clubbed digits |
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
|
| Osteolysis hereditary multicentric |
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
|
| Hypoplasia of the tibia with polydactyly |
N/A |
N/A |
No information
|
| Trigonocephaly -- ptosis -- mental retardation |
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
|
| 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
|
| Alveolar Bone Loss |
N/A |
N/A |
No information
|
| Amelia, autosomal recessive |
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
|
| 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
|
| 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
|
| 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
|
| 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 -- 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
|
| 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
|
| 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
|
| 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
|
| 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
|
| 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
|
| Duplication of the thumb, unilateral biphalangeal |
N/A |
N/A |
No information
|
| Keratosis palmaris et plantaris -- clinodactyly |
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
|
| 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
|
| 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
|
| 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 -- 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
|
| Pseudoachondroplasia |
N/A |
N/A |
No information
|
| Hyperthermia induced defects |
N/A |
N/A |
No information
|
| Metacarpals 4 and 5 fusion |
N/A |
N/A |
No information
|
| Thrombocytopenia -- cerebellar hypoplasia -- short stature |
N/A |
N/A |
No information
|
| Radius absent -- anogenital anomalies |
N/A |
N/A |
No information
|
| Craniofaciocardioskeletal syndrome |
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
|
| 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
|
| Encephalopathy -- intracranial calcification -- growth hormone deficiency -- microcephaly -- retinal degeneration |
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
|
| Microcephalic primordial dwarfism, Toriello type |
N/A |
N/A |
No information
|
| Pterygium colli -- mental retardation -- digital anomalies |
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
|
| 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
|
| Myelofibrosis-osteosclerosis |
N/A |
N/A |
No information
|
| Forestier's disease |
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
|
| Letterer-Siwe disease |
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
|
| 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
|
| Eosinophilic granuloma |
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
|
| Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations |
N/A |
N/A |
No information
|
| Otosclerosis, familial |
N/A |
N/A |
No information
|
| Short stature -- cranial hyperostosis -- hepatomegaly |
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
|
| 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
|
| Oculodentoosseous dysplasia dominant |
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
|
| 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
|
| Femur-fibula-ulna syndrome |
N/A |
N/A |
No information
|
| Spondyloepimetaphyseal dysplasia with joint laxity |
N/A |
N/A |
No information
|
| Neurofaciodigitorenal syndrome |
N/A |
N/A |
No information
|
| Microcephaly, autosomal dominant |
N/A |
N/A |
No information
|
| Microcephalic osteodysplastic primordial dwarfism, type 2 |
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
|
| Microcephaly -- microphthalmos -- blindness |
N/A |
N/A |
No information
|
| Narrow oral fissure -- short stature -- cone-shaped epiphyses |
N/A |
N/A |
No information
|
| Radio-ulnar synostosis type 2 |
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
|
| Nivelon-Nivelon-Mabille syndrome |
N/A |
N/A |
No information
|
| Glossopalatine ankylosis -- micrognathia -- ear anomalies |
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
|
| 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
|
| Spondyloepimetaphyseal dysplasia congenita, Iraqi |
N/A |
N/A |
No information
|
| Thumb absent -- short stature -- immune deficiency |
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
|
| Synostosis of talus and calcaneus -- short stature |
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
|
| Coloboma of macula, type B brachydactyly |
N/A |
N/A |
No information
|
| Cartwright-Nelson-Fryns syndrome |
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
|
| 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
|
| Metaphyseal chondrodysplasia, recessive type |
N/A |
N/A |
No information
|
| Unusual facies, digital anomalies, and supernumerary teeth |
N/A |
N/A |
No information
|
| Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa |
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
|
| Digital arthropathy-brachydactyly, familial |
N/A |
N/A |
No information
|
| Osteoporosis -- macrocephaly -- blindness -- joint hyperlaxity |
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
|
| Exencephaly |
N/A |
N/A |
No information
|
| 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
|
| Acromicric dysplasia |
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
|
| 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
|
| Pierre Robin syndrome -- fetal chondrodysplasia |
N/A |
N/A |
No information
|
| Spondylo-humero-femoral dysplasia |
N/A |
N/A |
No information
|
| Double Upper and Lower Lip -- Hypertelorism -- Ptosis -- Blepharophimosis -- clinodactyly |
N/A |
N/A |
No information
|
| Syndactyly type 1 -- microcephaly -- mental retardation |
N/A |
N/A |
No information
|
| Microcephaly brachydactyly kyphoscoliosis |
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
|
| Theodor-Hertz-Goodman syndrome |
N/A |
N/A |
No information
|
| Allison atrophy |
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
|
| Clavicle, pseudoarthrosis of, congenital |
N/A |
N/A |
No information
|
| Congenital craniosynostosis maternal hyperthyroiditis |
N/A |
N/A |
No information
|
| Hunter-MacDonald syndrome |
N/A |
N/A |
No information
|
| Parietal foramina 2 |
N/A |
N/A |
No information
|
| Chondrodysplasia punctata lethal neonatal |
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
|
| Craniodiaphyseal dysplasia, autosomal dominant |
N/A |
N/A |
No information
|
| Hydrops fetalis -- anaemia -- immune disorder -- absent thumb |
N/A |
N/A |
No information
|
| Oto-facio-osseous-gonadal syndrome |
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
|
| Blepharophimosis, ptosis, polythelia and brachydactyly |
N/A |
N/A |
No information
|
| Osteoporosis, severe -- shortened long bones -- white sclerae |
N/A |
N/A |
No information
|
| Midline craniofacial anomalies and morning glory disc anomaly |
N/A |
N/A |
No information
|
| Craniostenosis cataract |
N/A |
N/A |
No information
|
| Eccentrochondrodysplasia |
N/A |
N/A |
No information
|
| Mesomelic dysplasia, Camera type |
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
|
| 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
|
| 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
|
| Foramina parietalia permagna |
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
|
| Chondrodysplasia punctata, non rhizomelic type |
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
|
| 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
|
| Unusual facies, hypotonia, mental retardation and radioulnar synostosis |
N/A |
N/A |
No information
|
| Nodulosis-arthropathy-osteolysis syndrome |
N/A |
N/A |
No information
|
| Florid cemento-osseous dysplasia |
N/A |
N/A |
No information
|
| Bruck syndrome 1 |
N/A |
N/A |
No information
|
| Bruck syndrome, 2 |
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
|
| Reflex sympathetic dystrophy syndrome |
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
|
| Apert syndrome |
N/A |
N/A |
1 per 100,000 people suffer from Apert syndrome, Genetics Home Reference website
|
| Cervical Spondylosis |
N/A |
N/A |
No information
|
| Periostitis |
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
|
| Nail-Patella Syndrome |
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
|
| 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
|
| 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
|
| Ollier 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
|
| Hallermann-Streiff Syndrome |
N/A |
N/A |
No information
|
| Acrocallosal Syndrome (Schinzel Type) |
N/A |
N/A |
No information
|
| Bloom Syndrome |
N/A |
N/A |
1 per 48,000 people of Ashkenazi Jewish descent suffer from Bloom syndrome, Genetics Home Reference website
|
| Baller-Gerold Syndrome |
N/A |
N/A |
No information
|
| Hypophosphatasia |
N/A |
N/A |
No information
|
| Aase Syndrome |
N/A |
N/A |
No information
|
| Dubowitz Syndrome |
N/A |
N/A |
No information
|
| C 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
|
| Gorlin-Chaudhry-Moss Syndrome |
N/A |
N/A |
No information
|
| KBG 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
|
| 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
|
| 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
|
| Mastocytosis -- short stature -- hearing loss |
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 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
|
| 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
|
| Intellectual deficit -- multiple anomalies |
N/A |
N/A |
No information
|
| Rathburn disease |
N/A |
N/A |
No information
|
| Facet syndrome |
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
|
| Erdheim-Chester syndrome |
N/A |
N/A |
No information
|
| Goldenhar disease |
N/A |
N/A |
No information
|
| Gollop Coates syndrome |
N/A |
N/A |
No information
|
| Goossens-Devriendt 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
|
| Majeed syndrome |
N/A |
N/A |
No information
|
| Mandibuloacral dysplasia |
N/A |
N/A |
No information
|
| Mazabraud syndrome |
N/A |
N/A |
No information
|
| MC4R deficiency |
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
|
| Ribbing syndrome |
N/A |
N/A |
No information
|
| Salvioli syndrome |
N/A |
N/A |
No information
|
| Sandrow 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
|
| Tizzard syndrome |
N/A |
N/A |
No information
|
| Turpin syndrome |
N/A |
N/A |
No information
|
| Aarskog-Ose-Pande syndrome |
N/A |
N/A |
No information
|
| Abderhalden-Kaufmann-Lignac 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
|
| 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
|
| Wagner-Stickler Syndrome |
N/A |
N/A |
No information
|
| Bruck syndrome |
N/A |
N/A |
No information
|
| OLEDAID |
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
|
| Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities |
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
|
| Hunter-Fraser syndrome |
N/A |
N/A |
No information
|
| Ives-Houston syndrome |
N/A |
N/A |
No information
|
| Keutel syndrome 2 |
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
|
| Chronic recurrent multifocal osteomyelitis |
N/A |
N/A |
No information
|
| CAMFAK syndrome |
N/A |
N/A |
No information
|
| Kozlowski-Warren-Fisher syndrome |
N/A |
N/A |
No information
|
| Billet-Bear syndrome |
N/A |
N/A |
No information
|
| Eagle's 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
|
| Chondromatosis (benign) |
N/A |
N/A |
No information
|
| Enchondromatosis (benign) |
N/A |
N/A |
No information
|
| Alsing syndrome |
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
|
| 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
|
| 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
|
| Basilar impression primary |
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
|
| 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
|
| Hydrocephalus -- craniosynostosis -- bifid nose |
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
|
| Genoa syndrome |
N/A |
N/A |
No information
|
| Campomelia Cumming type |
N/A |
N/A |
No information
|
| Camptocormism |
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
|
| 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
|
| 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
|
| Kozlowski-Celermajer 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
|
| Brugsch's 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
|
| Blegvad-Haxthausen syndrome |
N/A |
N/A |
No information
|
| Broberger-Zetterstrom syndrome |
N/A |
N/A |
No information
|
| Dent-Friedman syndrome |
N/A |
N/A |
No information
|
| Dreyfus syndrome |
N/A |
N/A |
No information
|
| Enslin syndrome |
N/A |
N/A |
No information
|
| Golden-Lakin syndrome |
N/A |
N/A |
No information
|
| Gorlin-Sedano 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
|
| Sclerosing bone dysplasia -- mental retardation |
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
|
| Temporo-mandibular ankylosis |
N/A |
N/A |
No information
|
| Omodysplasia -- dominant type |
N/A |
N/A |
No information
|
| Panostotic fibrous dysplasia |
N/A |
N/A |
No information
|
| Pterygium syndrome, X-linked |
N/A |
N/A |
No information
|
| Scaphotrapeziotrapezoid arthrodesis |
N/A |
N/A |
No information
|
| Humerospinal dysostosis -- congenital heart disease |
N/A |
N/A |
No information
|
| Progeroid syndrome, Penttinen type |
N/A |
N/A |
No information
|
| Short stature -- dysmorphic face -- pelvic scapula dysplasia |
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
|
| Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive |
N/A |
N/A |
No information
|
| Michels-Caskey syndrome |
N/A |
N/A |
No information
|
| Roifman syndrome |
N/A |
N/A |
No information
|
| Scholte syndrome |
N/A |
N/A |
No information
|
| Say syndrome |
N/A |
N/A |
No information
|
| Mesomelic dysplasia -- skin dimples |
N/A |
N/A |
No information
|
| Marfan-like syndrome, Boileau type |
N/A |
N/A |
No information
|
| Schaefer-Stein-Oshman syndrome |
N/A |
N/A |
No information
|
| Samson-Gardner syndrome |
N/A |
N/A |
No information
|
| Trichoscyphodysplasia |
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
|
| Plasmalogens synthesis deficiency isolated |
N/A |
N/A |
No information
|
| Premature aging, Okamoto type |
N/A |
N/A |
No information
|
| RHYNS syndrome |
N/A |
N/A |
No information
|
| Pfeiffer-Tietze-Welte 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
|
| Multiple synostoses syndrome 2 |
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
|
| Scheuermann's disease |
N/A |
N/A |
No information
|
| Delayed membranous cranial ossification |
N/A |
N/A |
No information
|
| Harrod Doman Keele syndrome |
N/A |
N/A |
No information
|
| Spondylocostal dysostosis, Dandy-Walker |
N/A |
N/A |
No information
|
| Emerinopathy |
N/A |
N/A |
No information
|
| Pseudopapilledema -- blepharophimosis -- hand anomalies |
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
|
| Oro acral syndrome |
N/A |
N/A |
No information
|
| Frank-Ter Haar syndrome |
N/A |
N/A |
No information
|
| Richieri Costa Guion Almeida Cohen 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
|
| Lambdoid synostosis familial |
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
|
| 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
|
| Montefiore syndrome |
N/A |
N/A |
No information
|
| Osteosclerosis, abnormalities of nervous system and meninges |
N/A |
N/A |
No information
|
| Lowry-Maclean syndrome |
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
|
| Say-Carpenter syndrome |
N/A |
N/A |
No information
|
| Metaphyseal acroscyphodysplasia |
N/A |
N/A |
No information
|
| Sohval-Soffer syndrome |
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
|
| Say-Meyer syndrome |
N/A |
N/A |
No information
|
| Short limb dwarf lethal, Mcalister Crane type |
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
|
| Manouvrier syndrome |
N/A |
N/A |
No information
|
| Cerebro oculo skeleto renal 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
|
| Imaizumi Kuroki syndrome |
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
|
| 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
|
| Saito-Kuba-Tsuruta syndrome |
N/A |
N/A |
No information
|
| Corneodermatoosseous 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
|
| Fibromatosis multiple non ossifying |
N/A |
N/A |
No information
|
| Kozlowski-Brown-Hardwick 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
|
| Lobstein disease |
N/A |
N/A |
No information
|
| Metaphyseal dysplasia -- maxillary hypoplasia -- brachydactyly |
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
|
| COACH syndrome |
N/A |
N/A |
No information
|
| Herrmann-Opitz craniosynostosi |
N/A |
N/A |
No information
|
| Kleeblattschaedel syndrome |
N/A |
N/A |
No information
|
| Patterson-Stevenson syndrome |
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
|
| ECP syndrome |
N/A |
N/A |
No information
|
| Ectopia lentis, isolated |
N/A |
N/A |
No information
|
| Blepharo facio skeletal syndrome |
N/A |
N/A |
No information
|
| Daneman Davy Mancer syndrome |
N/A |
N/A |
No information
|
| Cohen-Hayden 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
|
| Gunal-Seber-Basaran syndrome |
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
|
| Nicolaides-Baraitser syndrome |
N/A |
N/A |
No information
|
| Powell-Chandra-Saal syndrome |
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
|
| Fukuda-Miyanomae-Nakata 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
|
| 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
|
| Mickleson 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
|
| 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
|
| 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
|
| Faye-Petersen-Ward-Carey syndrome |
N/A |
N/A |
No information
|
| Coxoauricular 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
|
| Toriello-Higgins-Miller 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
|
| 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
|
| Synovial osteochondromatosis |
N/A |
N/A |
No information
|
| Spranger-Schinzel-Myers syndrome |
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
|
| Omodysplasia |
N/A |
N/A |
No information
|
| Sandhaus Ben-Ami syndrome |
N/A |
N/A |
No information
|
| Myhre-Ruvalcaba-Graham syndrome |
N/A |
N/A |
No information
|
| Hoon-Hall syndrome |
N/A |
N/A |
No information
|
| MASS syndrome |
N/A |
N/A |
No information
|
| Sallis-Beighton syndrome |
N/A |
N/A |
No information
|
| Hunter-Carpenter-Macdonald syndrome |
N/A |
N/A |
No information
|
| Hunter-McAlpine syndrome |
N/A |
N/A |
No information
|
| Berk-Tabatznik syndrome |
N/A |
N/A |
No information
|
| Cushing's symphalangism |
N/A |
N/A |
No information
|
| Axial osteosclerosis |
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
|
| 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
|
| Pseudoaminopterin syndrome |
N/A |
N/A |
No information
|
| Brachymetapody, anodontia, hypotrichosis, albinoidism |
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
|
| Al Gazali Sabrinathan Nair syndrome |
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
|
| Klinefelter syndrome variant |
N/A |
N/A |
1 per 50,000 males are affected by Klinefelter syndrome variants, Genetics Home Reference website
|
| Buttiens-Fryns syndrome |
N/A |
N/A |
No information
|
| Brachytelephalangy, characteristic facies, Kallmann |
N/A |
N/A |
No information
|
| Beemer-Ertbruggen syndrome |
N/A |
N/A |
No information
|
| Carnevale-Hernandez-Castillo syndrome |
N/A |
N/A |
No information
|
| Baker-Vinters 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
|
| Battaglia Neri syndrome |
N/A |
N/A |
No information
|
| Beardwell syndrome |
N/A |
N/A |
No information
|
| Carnevale-Canun-Mendoza syndrome |
N/A |
N/A |
No information
|
| Baraitser-Rodeck-Garner syndrome |
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
|
| 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
|
| 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
|
| Oculodentoosseous dysplasia recessive |
N/A |
N/A |
No information
|
| Craniotelencephalic dysplasia |
N/A |
N/A |
No information
|
| Maroteaux-Stanescu-Cousin syndrome |
N/A |
N/A |
No information
|
| Cranioacrofacial 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
|
| 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
|
| Desbuquois syndrome |
N/A |
N/A |
No information
|
| Lujan-Fryns syndrome |
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
|
| Pyle disease |
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
|
| 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
|
| Severe achondroplasia with developmental delay and acanthosis nigricans |
N/A |
N/A |
only a few cases of SADDAN have been reported worldwide, Genetics Home Reference website
|
| Fairbank disease |
N/A |
N/A |
No information
|
| Touraine-Solente-Gole syndrome |
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
|
| Patterson pseudoleprechaunism syndrome |
N/A |
N/A |
No information
|
| Chondrocalcinosis |
N/A |
N/A |
No information
|
| Cranioectodermal dysplasia |
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
|
| W syndrome |
N/A |
N/A |
No information
|
| Gorham's syndrome |
N/A |
N/A |
No information
|
| Buschke Ollendorff syndrome |
N/A |
N/A |
No information
|
| Mietens syndrome |
N/A |
N/A |
No information
|
| Juberg-Hayward syndrome |
N/A |
N/A |
No information
|
| Roberts syndrome |
N/A |
N/A |
No information
|
| Lowe oculocerebrorenal syndrome |
N/A |
N/A |
No information
|
| Strudwick syndrome |
N/A |
N/A |
only a few cases of the condition have been reported, Genetics Home Reference website
|
| Rubinstein-Taybi like 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
|
| 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
|
| Von voss Cherstvoy syndrome |
N/A |
N/A |
No information
|
| Waaler Aarskog syndrome |
N/A |
N/A |
No information
|
| Webster Deming 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
|
| Worth syndrome |
N/A |
N/A |
No information
|
| Wisconsin 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
|
| Dahlberg syndrome |
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
|
| Bencze 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
|
| Van Der Bosh syndrome |
N/A |
N/A |
No information
|
| Koller syndrome |
N/A |
N/A |
No information
|
| Lewis (F.) syndrome |
N/A |
N/A |
No information
|
| Silverman-Handmaker 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
|
| Osteoglophonic dwarfism |
N/A |
N/A |
No information
|
| Nievergelt syndrome |
N/A |
N/A |
No information
|
| Currarino-Silverman |
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
|
| Martsolf syndrome |
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
|
| 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
|
| 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
|
| Klinefelter syndrome, variants |
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
|
| 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
|
| 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
|
| Hand-Schuller-Christian Syndrome |
N/A |
N/A |
No information
|
| 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
|
