| Disease | Prevalence Estimate | US people estimate | Statistic Used for Calculation |
| Extradural hematoma |
N/A |
N/A |
No information
|
| Broken finger |
N/A |
N/A |
No information
|
| Broken foot |
N/A |
N/A |
No information
|
| Foot fracture |
N/A |
N/A |
No information
|
| Broken hand |
N/A |
N/A |
No information
|
| Hand fracture |
N/A |
N/A |
No information
|
| Broken leg |
N/A |
N/A |
No information
|
| Fractured femur |
N/A |
N/A |
No information
|
| Broken toe |
N/A |
N/A |
No information
|
| Dislocated elbow |
N/A |
N/A |
No information
|
| Spastic Paraplegia 42, Autosomal Dominant |
N/A |
N/A |
No information
|
| Acral lentiginous melanoma |
N/A |
N/A |
No information
|
| Spastic paraplegia 30, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 32, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 33, autosomal dominant |
N/A |
N/A |
No information
|
| Neuropathy sensory spastic paraplegia |
N/A |
N/A |
No information
|
| Spastic paraplegia 3, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked recessive, 2 |
N/A |
N/A |
No information
|
| Spastic paraplegia 4, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked recessive, 3 |
N/A |
N/A |
No information
|
| Spastic paraplegia 8, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 9, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2AII |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1A |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1B |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2B |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1C |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4A |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2C |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1D |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2D |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1E |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4C |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2E |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 1F |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2G |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4E |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4F |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2H |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4G |
N/A |
N/A |
No information
|
| Spastic paraplegia type 5A, recessive |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2I |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4H |
N/A |
N/A |
No information
|
| Spastic paraplegia type 5B, recessive |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2J |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, type 2 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2A |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, type 4 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, demyelinating, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth, demyelinating, autosomal recessive |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, type 1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2L |
N/A |
N/A |
No information
|
| Spastic paraplegia 24 |
N/A |
N/A |
No information
|
| Foot conditions |
N/A |
N/A |
No information
|
| Leg conditions |
N/A |
N/A |
No information
|
| Knee conditions |
N/A |
N/A |
No information
|
| Elbow conditions |
N/A |
N/A |
No information
|
| Finger conditions |
N/A |
N/A |
No information
|
| Wrist conditions |
N/A |
N/A |
No information
|
| Shoulder conditions |
N/A |
N/A |
No information
|
| Psoriasis on Eblows and Knees |
N/A |
N/A |
No information
|
| Psoriasis on trunk and limbs |
N/A |
N/A |
No information
|
| Palmoplantar Psoriasis |
N/A |
N/A |
No information
|
| Spinal Muscular Atrophy |
approx 1 in 6,000 or 0.02% or 45,333 people in USA |
45,333 |
1 per 6,000 - 10,000 people suffer from spinal muscular atrophy, Genetics Home Reference website
|
| Spinal Muscular Atrophy type I |
N/A |
N/A |
No information
|
| Spinal Muscular Atrophy type II |
N/A |
N/A |
No information
|
| Spinal Muscular Atrophy type III |
N/A |
N/A |
No information
|
| Adult SMA |
N/A |
N/A |
No information
|
| Muscular Dystrophy |
N/A |
N/A |
No information
|
| Duchenne Muscular Dystrophy |
N/A |
N/A |
No information
|
| Becker Muscular Dystrophy |
N/A |
N/A |
No information
|
| Limb-girdle Muscular Dystrophy |
N/A |
N/A |
No information
|
| Muscular dystrophy, Duchenne and Becker type |
approx 1 in 3,500 or 0.03% or 77,714 people in USA |
77,714 |
1 per 3,500 - 5,000 male newborns suffer from muscular dystrophy, Duchenne and Becker types, Genetics Home Reference website
|
| Adult progressive spinal muscular atrophy, Aran Duchenne type |
N/A |
N/A |
No information
|
| Becker's muscular dystrophy (BMD) |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2K |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal dominant, type 1F |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal dominant, type 1G |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle -- mental retardation |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1B |
N/A |
N/A |
No information
|
| Limb-Girdle muscular dystrophy type 2A |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1A |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2B |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1C |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2C |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1D |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2D |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 1E |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2E |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2F |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2G |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2H |
N/A |
N/A |
No information
|
| Limb-girdle muscular dystrophy type 2I |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb girdle |
N/A |
N/A |
No information
|
| Myasthenia, familial limb-girdle |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal dominant |
N/A |
N/A |
No information
|
| Myopathy, limb-girdle, with bone fragility |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle type 2M |
N/A |
N/A |
No information
|
| Muscular dystrophy limb girdle type 2A, Erb type |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2H |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2B |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb girdle, autosomal recessive, type 2A |
N/A |
N/A |
No information
|
| Muscular dystrophy, limb-girdle, autosomal recessive, type 2E |
N/A |
N/A |
No information
|
| Myasthenia, Limb-Girdle, with Tubular Aggregates |
N/A |
N/A |
No information
|
| Shoulder and girdle defect -- mental retardation, familial |
N/A |
N/A |
No information
|
| Muscular Dystrophy, Limb-Girdle, Type 3 |
N/A |
N/A |
No information
|
| Limb-girdle Muscular Dystropy type 1B |
N/A |
N/A |
No information
|
| Autosomal recessive limb-girdle muscular dystrophy, type 2G |
N/A |
N/A |
No information
|
| Muscular dystrophy limb-girdle (generic term) |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 7 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 6 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 5 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 4 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 3 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 2 |
N/A |
N/A |
No information
|
| Restless Legs Syndrome, Susceptibility To, 1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked, 1 |
N/A |
N/A |
No information
|
| Onychodystrophy -- deafness |
N/A |
N/A |
No information
|
| Spinal muscular atrophy, Adult form |
N/A |
N/A |
No information
|
| Shoulder tendinitis |
N/A |
N/A |
No information
|
| Achilles tendinitis |
N/A |
N/A |
No information
|
| Knee tendinitis |
N/A |
N/A |
No information
|
| Shoulder impingement syndrome |
N/A |
N/A |
No information
|
| Shoulder bursitis |
N/A |
N/A |
No information
|
| Shoulder arthritis |
N/A |
N/A |
No information
|
| Impingement syndrome |
N/A |
N/A |
No information
|
| Seronegative spondyloarthropathy |
N/A |
N/A |
No information
|
| Knee osteoarthritis |
N/A |
N/A |
No information
|
| Finger osteoarthritis |
N/A |
N/A |
No information
|
| Wrist osteoarthritis |
N/A |
N/A |
No information
|
| Paralysis |
approx 1 in 111 or 0.90% or 2.4 million people in USA |
2,447,999 |
9 per 1000 - NHIS95 (paralysis of extremeties complete/partial)
|
| Paraplegia |
N/A |
N/A |
No information
|
| Legg-Calve-Perthes disease |
N/A |
N/A |
No information
|
| Flat feet |
N/A |
N/A |
No information
|
| Foot sprain |
N/A |
N/A |
No information
|
| Leg injury |
N/A |
N/A |
No information
|
| Thigh conditions |
N/A |
N/A |
No information
|
| Knee injury |
N/A |
N/A |
No information
|
| Knee arthritis |
N/A |
N/A |
No information
|
| Chondromalacia |
N/A |
N/A |
No information
|
| Osgood-Schlatter Disease |
N/A |
N/A |
No information
|
| Wrist injury |
N/A |
N/A |
No information
|
| Seal finger syndrome |
N/A |
N/A |
No information
|
| Triphalangeal thumb |
N/A |
N/A |
No information
|
| Ivory Epiphyses |
N/A |
N/A |
No information
|
| Supernumeracy Carpal Bones |
N/A |
N/A |
No information
|
| Carpal Fusion |
N/A |
N/A |
No information
|
| Carpal Synostosis |
N/A |
N/A |
No information
|
| Tarsal Fusion |
N/A |
N/A |
No information
|
| Tarsal Synostosis |
N/A |
N/A |
No information
|
| Inherited Acroosteolysis, phalangeal type |
N/A |
N/A |
No information
|
| Acquired Acroosteolysis, phalangeal type |
N/A |
N/A |
No information
|
| Acroosteolysis |
N/A |
N/A |
No information
|
| Acroosteolysis, phalangeal type |
N/A |
N/A |
No information
|
| Brachymetatarsalia |
N/A |
N/A |
No information
|
| Brachymetatarsalism |
N/A |
N/A |
No information
|
| Brachymetacarpalism |
N/A |
N/A |
No information
|
| Brachymetacarpalia |
N/A |
N/A |
No information
|
| Ulnar Ray Deficiency |
N/A |
N/A |
No information
|
| Radial Ray Deficiency |
N/A |
N/A |
No information
|
| Terminal Transverse Defect |
N/A |
N/A |
No information
|
| Angel-Shaped Phalanges |
N/A |
N/A |
No information
|
| Macrodactyly |
N/A |
N/A |
No information
|
| Fromont Anomaly |
N/A |
N/A |
No information
|
| Polydactyly, Preaxial 1 |
N/A |
N/A |
No information
|
| Polydactyly, Preaxial 2 |
N/A |
N/A |
No information
|
| Polydactyly, Preaxial 3 |
N/A |
N/A |
No information
|
| Hyperpigmentation of fingers |
N/A |
N/A |
No information
|
| Hyperpigmentation of nails |
N/A |
N/A |
No information
|
| Autosomal recessive spastic paraplegia, type 11 |
N/A |
N/A |
No information
|
| Decreased range of motion |
N/A |
N/A |
No information
|
| Decreased mobility |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease (generic term) |
N/A |
N/A |
No information
|
| Nail psoriasis |
N/A |
N/A |
No information
|
| Primary restless leg syndrome |
N/A |
N/A |
No information
|
| Secondary restless leg syndrome |
N/A |
N/A |
No information
|
| Carpal tunnel syndrome pain |
N/A |
N/A |
No information
|
| Phantom limb pain |
N/A |
N/A |
No information
|
| Mental retardation -- short stature -- hand contractures -- genital anomalies |
N/A |
N/A |
No information
|
| Armpit Boil |
N/A |
N/A |
No information
|
| Thigh Boil |
N/A |
N/A |
No information
|
| Raynaud's phenomenon |
approx 1 in 20 or 5.00% or 13.6 million people in USA |
13,600,000 |
5-10% (NIAMS estimate). Scleroderma-related disorders including Raynaud's phenomenon between 250,000 and 992,500.
|
| Hammer toe |
N/A |
N/A |
No information
|
| Bunions |
approx 1 in 51 or 1.92% or 5.2 million people in USA |
5,235,999 |
19.25 per 1000 - NHIS95 (trouble with bunions)
|
| Bunionette |
N/A |
N/A |
No information
|
| Ingrown nails |
approx 1 in 38 or 2.60% or 7.1 million people in USA |
7,071,999 |
26 per 1000 - NHIS95 (trouble with ingrown nails)
|
| Ingrown toenail |
N/A |
N/A |
No information
|
| Ankle conditions |
N/A |
N/A |
No information
|
| Sprain |
N/A |
N/A |
No information
|
| Osteoarthritis |
approx 1 in 13 or 7.35% or 20 million people in USA |
19,999,999 |
20 million people (NIAMS); more than 16 million people (NWHIC)
|
| Gout |
approx 1 in 363 or 0.28% or 748,000 people in USA |
748,000 |
275 per 100,000 people (NIAMS)
|
| Infectious arthritis |
N/A |
N/A |
No information
|
| Reactive arthritis |
N/A |
N/A |
No information
|
| Tendinitis |
N/A |
N/A |
No information
|
| Arthrogryposis |
N/A |
N/A |
No information
|
| Thigh muscle strain |
N/A |
N/A |
No information
|
| Forearm muscle strain |
N/A |
N/A |
No information
|
| Joint injury -- knee |
N/A |
N/A |
No information
|
| Ankle Osteoarthritis |
N/A |
N/A |
No information
|
| Ankle injuries |
N/A |
N/A |
No information
|
| Ankle sprain |
N/A |
N/A |
No information
|
| Knee sprain |
N/A |
N/A |
No information
|
| Wrist sprain |
N/A |
N/A |
No information
|
| Acute gout |
N/A |
N/A |
No information
|
| Palmoplantar pustular psoriasis |
N/A |
N/A |
No information
|
| Pretibial Myxedema |
N/A |
N/A |
No information
|
| Achilles tendonitis |
N/A |
N/A |
No information
|
| Ulnar Neuropathy |
N/A |
N/A |
No information
|
| Hand eczema |
N/A |
N/A |
No information
|
| Shin splints |
N/A |
N/A |
No information
|
| Tarsal tunnel syndrome |
N/A |
N/A |
No information
|
| Hand neuropathy |
N/A |
N/A |
No information
|
| Restless Legs Syndrome |
N/A |
N/A |
No information
|
| Periodic limb movements in sleep |
N/A |
N/A |
No information
|
| Trigger finger |
N/A |
N/A |
No information
|
| Writer's cramp |
N/A |
N/A |
No information
|
| Tennis elbow |
N/A |
N/A |
No information
|
| Golfer's elbow |
N/A |
N/A |
No information
|
| Ulnar nerve injury |
N/A |
N/A |
No information
|
| Epicondylitis |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked recessive, 4 |
N/A |
N/A |
No information
|
| Marfan Syndrome type 2 |
N/A |
N/A |
No information
|
| Spastic paraplegia 6, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, X-linked recessive, 5 |
N/A |
N/A |
No information
|
| Microlissencephaly -- micromelia |
N/A |
N/A |
No information
|
| Shoulder Pain |
N/A |
N/A |
No information
|
| Tibial Fractures |
N/A |
N/A |
No information
|
| Bicep muscle strain |
N/A |
N/A |
No information
|
| Elbow sprain |
N/A |
N/A |
No information
|
| Toe sprain |
N/A |
N/A |
No information
|
| Radial Nerve Entrapment |
N/A |
N/A |
No information
|
| Finger Arthritis |
N/A |
N/A |
No information
|
| Skier's thumb |
N/A |
N/A |
No information
|
| Anterior Interosseous Nerve Compression |
N/A |
N/A |
No information
|
| Posterior Interosseous Nerve Syndrome |
N/A |
N/A |
No information
|
| Joint injury -- finger |
N/A |
N/A |
No information
|
| Elbow Osteoarthritis |
N/A |
N/A |
No information
|
| Toe Osteoarthritis |
N/A |
N/A |
No information
|
| Gamekeeper's thumb |
N/A |
N/A |
No information
|
| Finger sprain |
N/A |
N/A |
No information
|
| Calf muscle strain |
N/A |
N/A |
No information
|
| Hand muscle strain |
N/A |
N/A |
No information
|
| Ankle Arthritis |
N/A |
N/A |
No information
|
| Anterior Interosseous Nerve Syndrome |
N/A |
N/A |
No information
|
| Elbow Arthritis |
N/A |
N/A |
No information
|
| Shoulder sprain |
N/A |
N/A |
No information
|
| Toe Arthritis |
N/A |
N/A |
No information
|
| Radial Tunnel Syndrome |
N/A |
N/A |
No information
|
| Tricep muscle strain |
N/A |
N/A |
No information
|
| Joint injury -- ankle |
N/A |
N/A |
No information
|
| Shoulder muscle strain |
N/A |
N/A |
No information
|
| Joint injury -- elbow |
N/A |
N/A |
No information
|
| Upper arm muscle strain |
N/A |
N/A |
No information
|
| Wrist Arthritis |
N/A |
N/A |
No information
|
| Joint injury -- wrist |
N/A |
N/A |
No information
|
| Carpal spasm |
N/A |
N/A |
No information
|
| Psoriasis-like knee rash |
N/A |
N/A |
No information
|
| Diabetes like foot weakness |
N/A |
N/A |
No information
|
| Contact dermatitis -like behind-knee rash |
N/A |
N/A |
No information
|
| Ankle clonus |
N/A |
N/A |
No information
|
| Difficulty making fine hand movements |
N/A |
N/A |
No information
|
| Conditions associated with nail abnormalities |
N/A |
N/A |
No information
|
| Axillary lymphadenopathy |
N/A |
N/A |
No information
|
| Restless leg syndrome |
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 |
approx 1 in 100,000 or 0.00% or 2,720 people in USA |
2,720 |
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
|
| Charcot-Marie-Tooth disease -- deafness |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth Disorder |
approx 1 in 1,813 or 0.06% or 150,000 people in USA |
150,000 |
150,000 people are affected by Charcot-Marie-Tooth disease in the US, Genetics Home Reference website
|
| Charcot disease |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2K |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease with ptosis and parkinsonism |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth type 1 aplasia cutis congenital |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2B1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2B2 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4B1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4B2 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2AI |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, dominant intermediate 1 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, dominant intermediate 2 |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, dominant intermediate 3 |
N/A |
N/A |
No information
|
| Spastic paraplegia type 1, X-linked |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease deafness recessive type |
N/A |
N/A |
No information
|
| Charcot-Marie-Tooth disease, Type 2F |
N/A |
N/A |
No information
|
| Autosomal Dominant Charcot-Marie-Tooth with hearing loss |
N/A |
N/A |
No information
|
| Spastic Paraplegia 18, Autosomal Recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 11, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 23 |
N/A |
N/A |
No information
|
| Spastic paraplegia 17 |
N/A |
N/A |
No information
|
| Spastic paraplegia 20, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 14, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 15, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 25, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 26, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 16, X-linked |
N/A |
N/A |
No information
|
| Spastic paraplegia 10, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 12, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 13, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 19, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 29, autosomal dominant |
N/A |
N/A |
No information
|
| Spastic paraplegia 7, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 39, autosomal recessive |
N/A |
N/A |
No information
|
| Spastic paraplegia 31, autosomal dominant |
N/A |
N/A |
No information
|
| Osgood Schlatter Condition |
N/A |
N/A |
No information
|
| Polydactyly preaxial |
N/A |
N/A |
No information
|
| Syndactyly type 1 |
N/A |
N/A |
No information
|
| Syndactyly type 1 -- subtype 1 |
N/A |
N/A |
No information
|
| Syndactyly type 1 -- subtype 2 |
N/A |
N/A |
No information
|
| Syndactyly type 1 -- subtype 3 |
N/A |
N/A |
No information
|
| Syndactyly type 1 -- subtype 4 |
N/A |
N/A |
No information
|
| Syndactyly |
N/A |
N/A |
No information
|
| Osteogenesis imperfecta -- congenital joint contractures |
N/A |
N/A |
No information
|
| Amputation |
approx 1 in 142 or 0.70% or 1.9 million people in USA |
1,903,999 |
7 per 1000 (NHIS95: excludes toes/fingers only)
|
| Foot injury |
N/A |
N/A |
No information
|
| Iliotibial Band Syndrome |
N/A |
N/A |
No information
|
| Plica Syndrome |
N/A |
N/A |
No information
|
| Knock knees |
N/A |
N/A |
No information
|
| Sclerodactyly |
N/A |
N/A |
No information
|
| Hand, Foot, & Mouth Disease |
N/A |
N/A |
No information
|
| Erythema nodosum |
N/A |
N/A |
No information
|
| Erythromelalgia |
N/A |
N/A |
No information
|
| Nail conditions |
N/A |
N/A |
No information
|
| Nail avulsion |
N/A |
N/A |
No information
|
| Ruptured achilles tendon |
N/A |
N/A |
No information
|
| Deep vein thrombosis |
N/A |
N/A |
No information
|
| Pill rolling hand movements |
N/A |
N/A |
No information
|
| Polydactyly |
N/A |
N/A |
No information
|
| Elbow injury |
N/A |
N/A |
No information
|
| Forearm injury |
N/A |
N/A |
No information
|
| Congenital short femur |
N/A |
N/A |
No information
|
| Split hand/split foot malformation, autosomal recessive |
N/A |
N/A |
No information
|
| Mental retardation, X-linked -- epilepsy -- progressive joint contractures -- typical face |
N/A |
N/A |
No information
|
| Nail dysplasia, isolated congenital |
N/A |
N/A |
No information
|
| Myopathy, Distal 3 |
N/A |
N/A |
No information
|
| Myopathy, Distal 2 |
N/A |
N/A |
No information
|
| Distal Myopathy 1 |
N/A |
N/A |
No information
|
| Thumb sucking |
N/A |
N/A |
No information
|
| Foot ulcer |
N/A |
N/A |
No information
|
| Cramp |
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
|
| Adducted thumbs -- arthrogryposis, Christian type |
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
|
| Alopecia-contractures-dwarfism-mental retardation |
N/A |
N/A |
No information
|
| Blepharophimosis -- ptosis -- syndactyly -- mental retardation |
N/A |
N/A |
No information
|
| Brachydactyly -- mesomelia -- mental retardation -- heart defects |
N/A |
N/A |
No information
|
| Klippel Trenaunay Weber syndrome |
N/A |
N/A |
No information
|
| Klippel-Trenaunay Syndrome |
N/A |
N/A |
No information
|
| Brachydactyly -- anonychia |
N/A |
N/A |
No information
|
| Dwarfism, short-limb -- absent fibulas -- very short digits |
N/A |
N/A |
No information
|
| Mental mixed retardation -- deafness -- clubbed digits |
N/A |
N/A |
No information
|
| Severe mental retardation and absent nails of hallux and pollex |
N/A |
N/A |
No information
|
| Hypoplastic thumbs -- hydranencephaly |
N/A |
N/A |
No information
|
| Midphalangeal hair |
N/A |
N/A |
No information
|
| Pterygia -- mental retardation -- facial dysmorphism |
N/A |
N/A |
No information
|
| Deafness -- enamel hypoplasia -- nail defects |
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
|
| Dandy-Walker malformation postaxial polydactyly |
N/A |
N/A |
No information
|
| Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy |
N/A |
N/A |
No information
|
| Short rib-polydactyly syndrome, Verma-Naumoff type |
N/A |
N/A |
No information
|
| Deafness, congenital onychodystrophy, recessive form |
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
|
| Hypotrichosis, syndactyly and retinal degeneration |
N/A |
N/A |
No information
|
| Deafness onychodystrophy dominant form |
N/A |
N/A |
No information
|
| Short stature -- Robin sequence -- cleft mandible -- hand anomalies -- clubfoot |
N/A |
N/A |
No information
|
| Anophthalmos with limb anomalies |
N/A |
N/A |
No information
|
| Polydactyly visceral anomalies cleft lip palate |
N/A |
N/A |
No information
|
| Spastic paraplegia epilepsy mental retardation |
N/A |
N/A |
No information
|
| Mental retardation -- contractural arachnodactyly |
N/A |
N/A |
No information
|
| Microcephaly with spastic quadriplegia |
N/A |
N/A |
No information
|
| Mental retardation -- nasal hypoplasia -- obesity -- genital hypoplasia |
N/A |
N/A |
No information
|
| Mental retardation -- short stature -- absent phalanges |
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
|
| Lymphoedema tarda |
N/A |
N/A |
No information
|
| Hypodontia and Dupuytren contracture |
N/A |
N/A |
No information
|
| Unusual facies, macrocephaly, aplasia of corpus callosum, seizures, hypertrichosis, claw hands and overlapping fingers |
N/A |
N/A |
No information
|
| Limb reduction defect (generic term) |
N/A |
N/A |
No information
|
| Facio-auriculo-radial dysplasia |
N/A |
N/A |
No information
|
| Posterior tibial tendon rupture |
N/A |
N/A |
No information
|
| Carpal Tunnel Syndrome |
N/A |
N/A |
No information
|
| Hereditary Spastic Paraplegia |
N/A |
N/A |
No information
|
| Quadriplegia |
N/A |
N/A |
No information
|
| Plantar Fasciitis |
N/A |
N/A |
No information
|
| Tarsal tunnel |
N/A |
N/A |
No information
|
| Spinal muscular atrophy, type 3 |
N/A |
N/A |
No information
|
| Spinal muscular atrophy with respiratory distress 1 |
N/A |
N/A |
No information
|
| Spinal muscular atrophy type 2 |
N/A |
N/A |
No information
|
| Spinal muscular atrophy, type I, with congenital bone fractures |
N/A |
N/A |
No information
|
| Spinal muscular atrophy, Ryukyuan type |
N/A |
N/A |
No information
|
| Cerebral Palsy, Spastic Quadriplegic, 1 |
N/A |
N/A |
No information
|
| Cerebral Palsy, Spastic Quadriplegic, 2 |
N/A |
N/A |
No information
|
| Cerebral Palsy, Spastic Quadriplegic, 3 |
N/A |
N/A |
No information
|
| Microcephaly -- microphthalmia -- ectrodactyly of lower limbs -- prognathism |
N/A |
N/A |
No information
|
| Bowed legs |
N/A |
N/A |
No information
|
| Achilles tendon contracture |
N/A |
N/A |
No information
|
| Hallux valgus |
N/A |
N/A |
No information
|
| Heberden's nodes |
N/A |
N/A |
No information
|
| Homans' sign |
N/A |
N/A |
No information
|
| Osler's nodes |
N/A |
N/A |
No information
|
| Athlete's foot |
N/A |
N/A |
No information
|
| Fungal nail infections |
N/A |
N/A |
No information
|
| Paronychia |
N/A |
N/A |
No information
|
| Arm injury |
N/A |
N/A |
No information
|
| Acrocyanosis |
N/A |
N/A |
No information
|
| Carpopedal spasm |
N/A |
N/A |
No information
|
| Footdrop |
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 |
approx 1 in 5,000 or 0.02% or 54,400 people in USA |
90,666 |
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
|
| Oligodactyly -- tetramelic postaxial |
N/A |
N/A |
No information
|
| Adactylia unilateral dominant |
N/A |
N/A |
No information
|
| Hereditary koilonychia |
N/A |
N/A |
No information
|
| Fibular aplasia |
N/A |
N/A |
No information
|
| Compulsive finger picking |
N/A |
N/A |
No information
|
| Aniridia -- absent patella |
N/A |
N/A |
No information
|
| Poland Syndrome |
N/A |
N/A |
No information
|
| Nail dysplasia |
N/A |
N/A |
No information
|
| Jackson-Weiss Syndrome |
N/A |
N/A |
No information
|
| Microcephaly albinism digital anomalies syndrome |
N/A |
N/A |
No information
|
| Spinal muscular atrophy -- Dandy-Walker complex -- cataracts |
N/A |
N/A |
No information
|
| SPG |
N/A |
N/A |
No information
|
| Split hand -- split foot |
N/A |
N/A |
No information
|
| Split hand -- split foot -- deafness |
N/A |
N/A |
No information
|
| Spinal muscular atrophy, scapuloperoneal |
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
|
| Keratosis palmoplantaris -- corneal dystrophy |
N/A |
N/A |
No information
|
| Congenital contractures |
N/A |
N/A |
No information
|
| Metatarsus adductus |
N/A |
N/A |
No information
|
| Synostoses, tarsal, carpal, and digital |
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
|
| Split hand split foot mandibular hypoplasia |
N/A |
N/A |
No information
|
| Sensory neuropathy type 1 |
N/A |
N/A |
No information
|
| Neuropathy hereditary sensory and autonomic type 1 |
N/A |
N/A |
No information
|
| Hereditary sensory and autonomic neuropathy 3 |
approx 1 in 3,700 or 0.03% or 73,513 people in USA |
73,513 |
estimated 1 per 3,700 people of Ashkenazi Jewish ancestry suffer from familial dysautonomia, Genetics Home Reference website
|
| Hereditary sensory neuropathy type 1 |
N/A |
N/A |
No information
|
| Hereditary sensory neuropathy type 2 |
N/A |
N/A |
No information
|
| Polyneuropathy -- hand defect |
N/A |
N/A |
No information
|
| Brachymetatarsus IV |
N/A |
N/A |
No information
|
| Adducted thumbs Dundar type |
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-onychic dysplasia |
N/A |
N/A |
No information
|
| Tricho-odonto-onychial dysplasia |
N/A |
N/A |
No information
|
| Onychotrichodysplasia and neutropenia |
N/A |
N/A |
No information
|
| Multiple congenital contractures |
N/A |
N/A |
No information
|
| Heart defects -- limb shortening |
N/A |
N/A |
No information
|
| Triphalangeal thumb, non opposable |
N/A |
N/A |
No information
|
| Tricho-retino-dento-digital syndrome |
N/A |
N/A |
No information
|
| Tricho odonto onycho dermal syndrome |
N/A |
N/A |
No information
|
| Callosities, hereditary painful |
N/A |
N/A |
No information
|
| Neuropathy, hereditary motor and sensory, LOM type |
N/A |
N/A |
No information
|
| Neuropathy, hereditary motor and sensory, Okinawa type |
N/A |
N/A |
No information
|
| Dejerine-Sottas Syndrome |
N/A |
N/A |
No information
|
| Hypertrophic neuropathy of Dejerine-Sottas |
N/A |
N/A |
No information
|
| Dejerine-Sottas disease |
N/A |
N/A |
No information
|
| Heart-hand syndrome, Spanish type |
N/A |
N/A |
No information
|
| Heart-hand syndrome, Slovenian type |
N/A |
N/A |
No information
|
| Holt-Oram Syndrome |
approx 1 in 100,000 or 0.00% or 2,720 people in USA |
2,720 |
estimated 1 per 100,000 people suffer from Holt-Oram disease, Genetics Home Reference website
|
| Wieacker-Wolff Syndrome |
N/A |
N/A |
No information
|
| Insulin resistance, short fifth metacarpals |
N/A |
N/A |
No information
|
| Radial ray agenesis |
N/A |
N/A |
No information
|
| Spastic paraplegia nephritis deafness |
N/A |
N/A |
No information
|
| Pelvic dysplasia arthrogryposis of lower limbs |
N/A |
N/A |
No information
|
| Rolled and spiral hairs -- palmoplantar keratoderma |
N/A |
N/A |
No information
|
| Radioulnar synostosis mental retardation hypotonia |
N/A |
N/A |
No information
|
| Ichthyosis tapered fingers midline groove up |
N/A |
N/A |
No information
|
| 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
|
| Pili torti -- onychodysplasia |
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 |
approx 1 in 100,000 or 0.00% or 2,720 people in USA |
2,720 |
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
|
| Epidermolysis bullosa, pretibial |
N/A |
N/A |
No information
|
| Epidermolysa bullosa simplex and limb girdle muscular dystrophy |
N/A |
N/A |
No information
|
| Epidermolysis Bullosa Dystrophica, Pretibial |
N/A |
N/A |
No information
|
| Leukonychia totalis -- trichilemmal cysts -- cilliary dystrophy |
N/A |
N/A |
No information
|
| Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome |
N/A |
N/A |
No information
|
| Ankle defects short stature |
N/A |
N/A |
No information
|
| Camptodactyly-ichthyosis syndrome |
N/A |
N/A |
No information
|
| Congenital ichthyosiform erythroderma |
N/A |
N/A |
No information
|
| Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
N/A |
N/A |
No information
|
| Congenital ichthyosis, microcephalus, quadriplegia |
N/A |
N/A |
No information
|
| Congenital Hemidysplasia with Ichthyosiform erythroderma and Limbs Defects |
N/A |
N/A |
No information
|
| Fingerprints absence -- congenital milia |
N/A |
N/A |
No information
|
| Arthrogryposis -- hyperkeratosis, lethal form |
N/A |
N/A |
No information
|
| Arthrogryposis Distal |
N/A |
N/A |
No information
|
| Arthrogrypotic hand abnormality and sensorineural hearing loss |
N/A |
N/A |
No information
|
| Arthrogryposis-like disorder |
N/A |
N/A |
No information
|
| Arthrogryposis due to muscular dystrophy |
N/A |
N/A |
No information
|
| Arthrogryposis -- ophthalmoplegia -- retinopathy |
N/A |
N/A |
No information
|
| Arthrogryposis IUGR thoracic dystrophy |
N/A |
N/A |
No information
|
| Arthrogryposis -- renal dysfunction -- cholestasis syndrome |
N/A |
N/A |
No information
|
| Arthrogryposis-like hand anomaly -- sensorineural deafness |
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
|
| Skin Creases, Multiple Benign Ring-Shaped, of Limbs |
N/A |
N/A |
No information
|
| Multiple Benign Ring-Shaped Creases on Limbs |
N/A |
N/A |
No information
|
| Cleft lip palate incisor and finger anomalies |
N/A |
N/A |
No information
|
| Hydrocephaly tall stature joint laxity |
N/A |
N/A |
No information
|
| Hydrocephaly tall stature joint laxity and kyphoscoliosis |
N/A |
N/A |
No information
|
| Distal myopathy, Welander type |
N/A |
N/A |
No information
|
| Microcephaly syndactyly brachymesophalangy |
N/A |
N/A |
No information
|
| Progressive neurodegeneration -- joint laxity -- cataract |
N/A |
N/A |
No information
|
| Keratosis palmoplantaris -- periodontopathia -- onychogryposis |
N/A |
N/A |
No information
|
| Palmoplantar Keratoderma |
N/A |
N/A |
No information
|
| Congenital dislocation of the patella |
N/A |
N/A |
No information
|
| Hypogonadotropic hypogonadism -- syndactyly |
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
|
| Brachydactyly -- elbow, wrist dysplasia |
N/A |
N/A |
No information
|
| Double fingernail of fifth finger |
N/A |
N/A |
No information
|
| Cleft lip palate -- oligodontia -- syndactyly -- pili torti |
N/A |
N/A |
No information
|
| Craniosynostosis Fontaine type |
N/A |
N/A |
No information
|
| Achenbach syndrome |
N/A |
N/A |
No information
|
| Acheiropodia |
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
|
| Lipoedema |
N/A |
N/A |
No information
|
| Keratosis Palmoplantaris -- Esophageal Carcinoma |
N/A |
N/A |
No information
|
| Keratosis Palmaris Et Plantaris with Esophageal Cancer |
N/A |
N/A |
No information
|
| Tylosis -- oesophageal carcinoma |
N/A |
N/A |
No information
|
| Oral Leukoplakia Associated with Tylosis and Esophageal Carcinoma |
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 syndrome |
N/A |
N/A |
No information
|
| Distal myopathy with vocal cord weakness |
N/A |
N/A |
No information
|
| Woolly hair -- palmoplantar keratoderma -- dilated cardiomyopathy |
N/A |
N/A |
No information
|
| Cartilaginous -- arthritic -- ophthalmic -- deafness syndrome |
N/A |
N/A |
No information
|
| Bowler's finger syndrome |
N/A |
N/A |
No information
|
| Burning feet syndrome |
N/A |
N/A |
No information
|
| Hairy elbows syndrome |
N/A |
N/A |
No information
|
| Distal myopathy with posterior leg and anterior upper limb involvement |
N/A |
N/A |
No information
|
| Hereditary inclusion body myopathy -- joint contractures -- ophthalmoplegia |
N/A |
N/A |
No information
|
| Scapuloperoneal amyotrophy |
N/A |
N/A |
No information
|
| Scapuloperoneal myopathy, X-linked dominant |
N/A |
N/A |
No information
|
| Amyotrophy, neurogenic scapuloperoneal, New England type |
N/A |
N/A |
No information
|
| Scapuloperoneal syndrome, neurogenic, Kaeser type |
N/A |
N/A |
No information
|
| Scapuloperoneal myopathy, MYH7-related |
N/A |
N/A |
No information
|
| Myopathy, early-onset with fatal cardiomyopathy |
N/A |
N/A |
No information
|
| Myopathy, X-linked with postural muscle atrophy |
N/A |
N/A |
No information
|
| Laing distal myopathy |
N/A |
N/A |
No information
|
| Desmin-related myopathy with Mallory body-like inclusions |
N/A |
N/A |
No information
|
| Minicore myopathy, antenatal onset, with arthrogryposis |
N/A |
N/A |
No information
|
| Myopathy mitochondrial -- cataract |
N/A |
N/A |
No information
|
| Myopathy congenital multicore with external ophthalmoplegia |
N/A |
N/A |
No information
|
| Myopathy with lactic acidosis and sideroblastic anemia |
N/A |
N/A |
No information
|
| Native American myopathy |
N/A |
N/A |
No information
|
| Minicore myopathy, moderate, with hand involvement |
N/A |
N/A |
No information
|
| Inclusion body myopathy 3, autosomal dominant |
N/A |
N/A |
No information
|
| Desmin related myopathy |
N/A |
N/A |
No information
|
| Distal myopathy, Markesbery-Griggs type |
N/A |
N/A |
No information
|
| Hereditary carnitine deficiency syndrome, myopathic |
N/A |
N/A |
No information
|
| Myopathy, X-linked, with excessive autophagy |
N/A |
N/A |
No information
|
| Welander distal myopathy, Swedish type |
N/A |
N/A |
No information
|
| Nemaline myopathy |
N/A |
N/A |
No information
|
| Carnitine palmitoyl transferase II deficiency, myopathic |
N/A |
N/A |
No information
|
| Congenital myopathy |
approx 1 in 10,000 or 0.01% or 27,200 people in USA |
27,199 |
estimated 1 per 10,000 people from Scandinavia suffer from myotonia congenita worldwide, Genetics Home Reference website
|
| Myopathy, myotubular |
N/A |
N/A |
No information
|
| Myopathy, congenital fiber-type disproportion |
N/A |
N/A |
No information
|
| Scapuloperoneal myopathy |
N/A |
N/A |
No information
|
| Centronuclear myopathy, congenital |
N/A |
N/A |
No information
|
| Diffuse idiopathic skeletal hyperostosis |
N/A |
N/A |
No information
|
| Nemalin myopathy, late onset type |
N/A |
N/A |
No information
|
| Nemaline myopathy, early onset type |
N/A |
N/A |
No information
|
| Bethlem myopathy |
N/A |
N/A |
No information
|
| Myopathy tubular aggregates |
N/A |
N/A |
No information
|
| Miyoshi myopathy |
N/A |
N/A |
No information
|
| Distal myopathy |
N/A |
N/A |
No information
|
| Inclusion body myopathy, 2 autosomal recessive |
N/A |
N/A |
No information
|
| Landouzy-Dejerine muscular dystrophy |
N/A |
N/A |
No information
|
| Emery-Dreifuss muscular dystrophy, dominant type |
N/A |
N/A |
No information
|
| Muscular dystrophy congenital, merosin negative |
N/A |
N/A |
No information
|
| Muscular dystrophy, congenital, merosin-positive |
N/A |
N/A |
No information
|
| Muscular dystrophy -- white matter spongiosis |
N/A |
N/A |
No information
|
| Scleroatonic muscular dystrophy |
N/A |
N/A |
No information
|
| Muscular Dystrophy -- Late Onset |
N/A |
N/A |
No information
|
| Hypotonic sclerotic muscular dystrophy |
N/A |
N/A |
No information
|
| Congenital muscular dystrophy syringomyelia |
N/A |
N/A |
No information
|
| Muscular dystrophy, congenital, type 1C |
N/A |
N/A |
No information
|
| Facioscapulohumeral Muscular Dystrophy -- Sensorineural Hearing Loss |
N/A |
N/A |
No information
|
| Scapuloperoneal Syndrome |
N/A |
N/A |
No information
|
| Muscular Dystrophy, Emery Dreifuss |
N/A |
N/A |
No information
|
| Muscular dystrophy congenital, with integrin deficiency |
N/A |
N/A |
No information
|
| Fryns Syndrome |
N/A |
N/A |
No information
|
| Diaphragmatic hernia -- upper limb defects |
N/A |
N/A |
No information
|
| Diaphragmatic defect -- limb deficiency -- skull defect |
N/A |
N/A |
No information
|
| Diaphragmatic agenesis -- radial aplasia -- omphalocele |
N/A |
N/A |
No information
|
| Humeroradioulnar synostosis |
N/A |
N/A |
No information
|
| Meningoencephalocele -- arthrogryposis -- hypoplastic thumb |
N/A |
N/A |
No information
|
| Wilms tumor and radial bilateral aplasia |
N/A |
N/A |
No information
|
| Hairy palms and soles |
N/A |
N/A |
No information
|
| Decreased ankle and knee reflexes |
N/A |
N/A |
No information
|
| Decorticate posture |
N/A |
N/A |
No information
|
| Decorticate posture in children |
N/A |
N/A |
No information
|
| Porokeratosis plantaris, palmaris, et disseminata |
N/A |
N/A |
No information
|
| Hypodontia -- nail dysgenesis |
N/A |
N/A |
No information
|
| Duplication of leg mirror foot |
N/A |
N/A |
No information
|
| Punctate acrokeratoderma -- freckle-like pigmentation |
N/A |
N/A |
No information
|
| Tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities |
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
|
| Limb dystonia |
N/A |
N/A |
No information
|
| Congenital heart disease -- radio ulnar synostosis -- mental retardation |
N/A |
N/A |
No information
|
| Crossed polydactyly |
N/A |
N/A |
No information
|
| Al Gazali Hirschsprung syndrome |
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
|
| Cornelia de Lange Syndrome |
approx 1 in 10,000 or 0.01% or 27,200 people in USA |
27,199 |
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
|
| Coffin-Siris Syndrome |
N/A |
N/A |
No information
|
| Femoral Hypoplasia-Unusual Facies Syndrome |
N/A |
N/A |
No information
|
| Vildervanck syndrome 4 |
N/A |
N/A |
No information
|
| Miller Syndrome |
N/A |
N/A |
No information
|
| Genee-Wiedemann syndrome |
N/A |
N/A |
No information
|
| Anetoderma, perifollicular |
N/A |
N/A |
No information
|
| Craniosynostosis contractures cleft |
N/A |
N/A |
No information
|
| Neuropathy, distal hereditary motor, Jerash type |
N/A |
N/A |
No information
|
| Preaxial polydactyly, type 1 |
N/A |
N/A |
No information
|
| Keratoderma, Palmoplantar, Diffuse |
N/A |
N/A |
No information
|
| Capillary Malformation of the Lower Lip, Lymphatic Malformation of Face and Neck, Asymmetry of Face and Limbs, and Partial/Generalized Overgrowth. |
N/A |
N/A |
No information
|
| Anonychia -- onychodystrophy |
N/A |
N/A |
No information
|
| Cloverleaf skull micromelia thoracic dysplasia |
N/A |
N/A |
No information
|
| Hypodontia dysplasia of nails |
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
|
| Long thumb, brachydactyly syndrome |
N/A |
N/A |
No information
|
| Polydactyly postaxial dental and vertebral |
N/A |
N/A |
No information
|
| Microphthalmia -- camptodactyly -- mental retardation |
N/A |
N/A |
No information
|
| Symphalangism -- brachydactyly -- craniosynostosis |
N/A |
N/A |
No information
|
| T-cell immunodeficiency, congenital alopecia and nail dystrophy |
N/A |
N/A |
No information
|
| Onychodystrophy and anonychia with type B brachydactyly and ectrodactyly |
N/A |
N/A |
No information
|
| Transverse limb deficiency -- hemangioma |
N/A |
N/A |
No information
|
| Carpotarsal osteochondromatosis |
N/A |
N/A |
No information
|
| Patau syndrome |
N/A |
N/A |
No information
|
| Achondroplasia |
N/A |
N/A |
No information
|
| Hairy elbows |
N/A |
N/A |
No information
|
| Keratosis palmoplantaris -- adenocarcinoma of the colon |
N/A |
N/A |
No information
|
| Congenital pseudoarthrosis |
N/A |
N/A |
No information
|
| Eosinophilic synovitis |
N/A |
N/A |
No information
|
| Edward Syndrome |
N/A |
N/A |
No information
|
| Spastic paraplegia glaucoma precocious puberty |
N/A |
N/A |
No information
|
| Fibular dimelia -- diplopodia |
N/A |
N/A |
No information
|
| Chondrodysplasia punctata with steroid sulfatase deficiency |
N/A |
N/A |
No information
|
| Traumatic amputation |
N/A |
N/A |
No information
|
| Adducted thumb syndrome recessive form |
N/A |
N/A |
No information
|
| Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia |
N/A |
N/A |
No information
|
| Bennett fracture |
N/A |
N/A |
No information
|
| Kuster syndrome |
N/A |
N/A |
No information
|
| Onchyomycosis |
N/A |
N/A |
No information
|
| Distal lateral subungual onychomycosis |
N/A |
N/A |
No information
|
| Proximal subungual onychomycosis |
N/A |
N/A |
No information
|
| White superficial Onychomycosis |
N/A |
N/A |
No information
|
| Endonyx onychomycosis |
N/A |
N/A |
No information
|
| Sarcoglycanopathy |
N/A |
N/A |
No information
|
| Olecranon bursitis |
N/A |
N/A |
No information
|
| Dyshidrotic dermatitis |
N/A |
N/A |
No information
|
| Bicipital tendinosis |
N/A |
N/A |
No information
|
| Bicipital tendonitis |
N/A |
N/A |
No information
|
| Bicipital syndrome |
N/A |
N/A |
No information
|
| Acute idiopathic polyneuritis |
N/A |
N/A |
No information
|
| Alpha-sarcoglycanopathy |
N/A |
N/A |
No information
|
| Glomus vagale tumors |
approx 1 in 100 or 1.00% or 2.7 million people in USA |
2,720,000 |
1% of glomus tumors are malignant
|
| Lipomatous hemangiopericytoma |
N/A |
N/A |
No information
|
| Keratosis palmoplantaris -- esophageal cancer |
N/A |
N/A |
No information
|
| Keratosis palmoplantaris with esophageal cancer |
N/A |
N/A |
No information
|
| Pierre Robin sequence -- congenital heart defect -- talipes |
N/A |
N/A |
No information
|
| X-linked mental retardation craniofacial abnormal microcephaly club |
N/A |
N/A |
No information
|
| Delta-sarcoglycanopathy |
N/A |
N/A |
No information
|
| Van Bogaert-Hozay syndrome |
N/A |
N/A |
No information
|
| Lymphedema, hereditary |
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
|
| Pachyonychia congenital syndrome type II |
N/A |
N/A |
No information
|
| Spondyloepiphyseal dysplasia -- brachydactyly and distinctive speech |
N/A |
N/A |
No information
|
| Adactylia unilateral |
N/A |
N/A |
No information
|
| Nephronophtisis familial, adult form -- spastic quadriparesia |
N/A |
N/A |
No information
|
| Renal dysplasia -- limb defects syndrome |
N/A |
N/A |
No information
|
| Ectodermal dysplasia, 'pure' hair-nail type |
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
|
| Dyschromatosis Universalis Hereditaria 1 |
N/A |
N/A |
No information
|
| Dyschromatosis Universalis Hereditaria 2 |
N/A |
N/A |
No information
|
| Genochondromatosis II |
N/A |
N/A |
No information
|
| Genochondromatosis |
N/A |
N/A |
No information
|
| Richieri-Costa Pereira syndrome |
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
|
| Peromelia |
N/A |
N/A |
No information
|
| Jussieu syndrome |
N/A |
N/A |
No information
|
| Oromandibular and Limb Hypogenesis Syndrome, Type V |
N/A |
N/A |
No information
|
| Oppenheim's dystonia |
N/A |
N/A |
No information
|
| Zechi-Ceide Syndrome |
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
|
| Primrose Syndrome |
N/A |
N/A |
No information
|
| Plasmalogenes synthesis deficiency isolated |
N/A |
N/A |
No information
|
| Piepkorn karp hickoc syndrome |
N/A |
N/A |
No information
|
| Ectodermal dysplasia -- absent dermatoglyphs |
N/A |
N/A |
No information
|
| Fischer Syndrome |
N/A |
N/A |
No information
|
| Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys |
N/A |
N/A |
No information
|
| Blepharophimosis with ptosis, syndactyly, and short stature |
N/A |
N/A |
No information
|
| Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals |
N/A |
N/A |
No information
|
| Acanthokeratodermia |
N/A |
N/A |
No information
|
| Hydrocephalus skeletal anomalies |
N/A |
N/A |
No information
|
| Barrow-Fitzsimmons Syndrome |
N/A |
N/A |
No information
|
| Thumb deformity |
N/A |
N/A |
No information
|
| Overgrowth radial ray defect arthrogryposis |
N/A |
N/A |
No information
|
| Esophageal Atresia, Coloboma, Clubfoot |
N/A |
N/A |
No information
|
| Split-Hand/Foot Malformation with Long Bone Deficiency 1 |
N/A |
N/A |
No information
|
| Talonavicular coalition |
N/A |
N/A |
No information
|
| Apelt-Gerkin-Lenz Syndrome |
N/A |
N/A |
No information
|
| Kirner Deformity |
N/A |
N/A |
No information
|
| Abuelo Forman Rubin Syndrome |
N/A |
N/A |
No information
|
| Autosomal Recessive Tetra-Amelia |
N/A |
N/A |
No information
|
| Focal Familial Palmoplantar Keratoderma with Punctate Hyperkeratosis of the Palmar Creases |
N/A |
N/A |
No information
|
| Tracheoesophageal fistula symphalangism |
N/A |
N/A |
No information
|
| Bennion-Patterson Syndrome |
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
|
| Scapuloperoneal syndrome, neurogenic type |
N/A |
N/A |
No information
|
| Macrodactyly of the hand |
N/A |
N/A |
No information
|
| Humeroradial synostosis syndrome |
N/A |
N/A |
No information
|
| Spinal shock |
N/A |
N/A |
No information
|
| Epidermolytic palmoplantar keratoderma Vorner type |
N/A |
N/A |
No information
|
| Lundberg I |
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
|
| Hypoplasia of the tibia with polydactyly |
N/A |
N/A |
No information
|
| Keratosis palmoplantaris striata 2 |
N/A |
N/A |
No information
|
| Short stature, Brussels type |
N/A |
N/A |
No information
|
| Pectus excavatum macrocephaly dysplastic nails |
N/A |
N/A |
No information
|
| Keratosis palmoplantaris papulosa |
N/A |
N/A |
No information
|
| Alopecia congenita keratosis palmoplantaris |
N/A |
N/A |
No information
|
| Keratosis palmoplantaris striata 1 |
N/A |
N/A |
No information
|
| Keratosis palmoplantaris striata 3 |
N/A |
N/A |
No information
|
| Keratoderma palmoplantaris transgrediens et progrediens |
N/A |
N/A |
No information
|
| Keratosis palmoplantaris striata |
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-like syndrome |
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
|
| Anonychia |
N/A |
N/A |
No information
|
| Anonychia with flexural pigmentation |
N/A |
N/A |
No information
|
| Polydactyly postaxial |
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
|
| 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
|
| 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
|
| 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
|
| Ectrodactyly, recessive form |
N/A |
N/A |
No information
|
| Ectrodactyly cleft palate syndrome |
N/A |
N/A |
No information
|
| Tibial aplasia ectrodactyly |
N/A |
N/A |
No information
|
| Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate |
N/A |
N/A |
No information
|
| Ectrodactyly dominant form |
N/A |
N/A |
No information
|
| Femur bifid with monodactylous ectrodactyly |
N/A |
N/A |
No information
|
| Oculo-cerebro-acral, (Roberts-like)-ectrodactyly |
N/A |
N/A |
No information
|
| Cleft lip -- palate -- ectrodactyly |
N/A |
N/A |
No information
|
| Cleft lip -- palate -- abnormal thumbs -- microcephaly |
N/A |
N/A |
No information
|
| Craniosynostosis -- fibular aplasia |
N/A |
N/A |
No information
|
| Congenital microgastria limb reduction defect |
N/A |
N/A |
No information
|
| Splenogonadal fusion, limb defects, micrognathia |
N/A |
N/A |
No information
|
| Acro-pectoro-renal field defect |
N/A |
N/A |
No information
|
| Microsomia -- hemifacial -- radial defects |
N/A |
N/A |
No information
|
| Radial defect -- Robin sequence |
N/A |
N/A |
No information
|
| Spastic paraplegia with precocious puberty |
N/A |
N/A |
No information
|
| Limb reduction defect |
N/A |
N/A |
No information
|
| Limb transversal defect -- cardiac anomaly |
N/A |
N/A |
No information
|
| Eye defects -- arachnodactyly -- cardiopathy |
N/A |
N/A |
No information
|
| Upper limb defect eye and ear abnormalities |
N/A |
N/A |
No information
|
| Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly |
N/A |
N/A |
No information
|
| Coronal synostosis, syndactyly and jejunal atresia |
N/A |
N/A |
No information
|
| Blepharoptosis -- cleft palate -- ectrodactyly -- dental anomalies |
N/A |
N/A |
No information
|
| Ectodermal dysplasia -- ectrodactyly -- macular dystrophy |
N/A |
N/A |
No information
|
| Fibular aplasia -- ectrodactyly |
N/A |
N/A |
No information
|
| Ectrodactyly -- cardiopathy -- dysmorphism |
N/A |
N/A |
No information
|
| Short stature -- monodactylous -- ectrodactyly -- cleft palate |
N/A |
N/A |
No information
|
| Cleft palate -- cardiac defect -- genital anomalies -- ectrodactyly |
N/A |
N/A |
No information
|
| Holoprosencephaly -- ectrodactyly -- cleft lip/palate |
N/A |
N/A |
No information
|
| Hydrops ectrodactyly syndactyly |
N/A |
N/A |
No information
|
| Ectrodactyly ectrodermal dysplasia |
N/A |
N/A |
No information
|
| Anophthalmia -- hand and foot defects -- mental retardation |
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
|
| Palant cleft palate syndrome |
N/A |
N/A |
No information
|
| Dysraphism -- cleft lip palate -- limb reduction defects |
N/A |
N/A |
No information
|
| EEC syndrome without cleft lip/palate |
N/A |
N/A |
No information
|
| Leg absence -- deformity -- cataract |
N/A |
N/A |
No information
|
| Contractures -- ectodermal dysplasia -- cleft lip palate |
N/A |
N/A |
No information
|
| Tibial hemimelia -- cleft lip/palate |
N/A |
N/A |
No information
|
| 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
|
| Dupuytren subungual exostosis |
N/A |
N/A |
No information
|
| Uropathy distal obstructive polydactyly |
N/A |
N/A |
No information
|
| Ellis-van Creveld syndrome |
approx 1 in 60,000 or 0.00% or 4,533 people in USA |
4,533 |
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
|
| Spastic paraplegia -- neuropathy -- poikiloderma |
N/A |
N/A |
No information
|
| Fanconi pancytopenia |
N/A |
N/A |
No information
|
| Duplication of the thumb, unilateral biphalangeal |
N/A |
N/A |
No information
|
| Palmoplantar keratoderma punctate, hereditary |
N/A |
N/A |
No information
|
| Palmoplantar keratoderma -- amyotrophy |
N/A |
N/A |
No information
|
| Diffuse palmoplantar keratoderma -- acrocyanosis |
N/A |
N/A |
No information
|
| Palmoplantar keratoderma -- XX sex reversal -- predisposition to squamous cell carcinoma |
N/A |
N/A |
No information
|
| Keratosis palmaris et plantaris -- clinodactyly |
N/A |
N/A |
No information
|
| Diffuse palmoplantar keratoderma, Norrbotten dominant type |
N/A |
N/A |
No information
|
| Keratoderma palmoplantar, Norrbotten recessive type |
N/A |
N/A |
No information
|
| Palmoplantar porokeratosis of Mantoux |
N/A |
N/A |
No information
|
| Keratosis palmoplantar periodontopathy |
N/A |
N/A |
No information
|
| Keratosis focal -- palmoplantar, gingival |
N/A |
N/A |
No information
|
| Leukoencephalopathy -- palmoplantar keratoderma |
N/A |
N/A |
No information
|
| Diffuse palmoplantar keratoderma, Bothnian type |
N/A |
N/A |
No information
|
| Thost-Unna palmoplantar keratoderma |
N/A |
N/A |
No information
|
| Keratoderma palmoplantar -- deafness |
N/A |
N/A |
No information
|
| Stuccokeratosis |
N/A |
N/A |
No information
|
| Porokeratosis punctata palmaris et plantaris |
N/A |
N/A |
No information
|
| Hypokeratosis, palmo-plantar, circumscribed |
N/A |
N/A |
No information
|
| Contractures hyperkeratosis lethal |
N/A |
N/A |
No information
|
| Hyperkeratosis lenticularis perstans |
N/A |
N/A |
No information
|
| Acromelanosis |
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
|
| Spondylohypoplasia arthrogryposis popliteal pterygium |
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
|
| X-linked hydrocephalus spectrum |
N/A |
N/A |
No information
|
| Achondrogenesis type 1A and 1B |
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 |
approx 1 in 40,000 or 0.00% or 6,800 people in USA |
6,799 |
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
|
| Pigmented purpuric eruption |
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
|
| Camptodactyly syndrome, Guadalajara type 1 |
N/A |
N/A |
No information
|
| Goodman camptodactyly |
N/A |
N/A |
No information
|
| Spondylo camptodactyly syndrome |
N/A |
N/A |
No information
|
| Tel-Hashomer camptodactyly syndrome |
N/A |
N/A |
No information
|
| Syncamptodactyly -- scoliosis |
N/A |
N/A |
No information
|
| Camptodactyly syndrome, Guadalajara type 2 |
N/A |
N/A |
No information
|
| Camptodactyly syndrome, Guadalajara type III |
N/A |
N/A |
No information
|
| Camptodactyly syndrome, Guadalajara type 3 |
N/A |
N/A |
No information
|
| Camptodactyly, tall stature, and hearing loss syndrome |
N/A |
N/A |
No information
|
| Camptodactyly -- taurinuria |
N/A |
N/A |
No information
|
| Camptodactyly -- vertebral fusion |
N/A |
N/A |
No information
|
| Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia |
N/A |
N/A |
No information
|
| Contractures, congenital, torticollis and malignant hyperthermia |
N/A |
N/A |
No information
|
| Metacarpals 4 and 5 fusion |
N/A |
N/A |
No information
|
| Radius absent -- anogenital anomalies |
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
|
| Acropustulosis |
N/A |
N/A |
No information
|
| L1 Syndrome |
N/A |
N/A |
No information
|
| Macrocephaly pigmentation large hands feet |
N/A |
N/A |
No information
|
| 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
|
| Eyebrows duplication syndactyly |
N/A |
N/A |
No information
|
| Larsen syndrome |
N/A |
N/A |
No information
|
| Larsen syndrome, recessive type |
N/A |
N/A |
No information
|
| Larsen-like syndrome, lethal type |
N/A |
N/A |
No information
|
| Immunodeficiency with short limb dwarfism |
N/A |
N/A |
No information
|
| Pterygium colli -- mental retardation -- digital anomalies |
N/A |
N/A |
No information
|
| Brachmann-De Lange Syndrome |
N/A |
N/A |
No information
|
| Ainhum |
N/A |
N/A |
No information
|
| Acromesomelic dysplasia |
N/A |
N/A |
No information
|
| Langer mesomelic dysplasia |
N/A |
N/A |
No information
|
| VATER association |
N/A |
N/A |
No information
|
| Whelan syndrome |
N/A |
N/A |
No information
|
| Varadi Papp syndrome |
N/A |
N/A |
No information
|
| Mohr syndrome |
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
|
| Patella aplasia, coxa vara, tarsal synostosis |
N/A |
N/A |
No information
|
| Macrodactyly of the foot |
N/A |
N/A |
No information
|
| Lymphedema distichiasis syndrome |
N/A |
N/A |
No information
|
| Lymphedema -- ptosis |
N/A |
N/A |
No information
|
| Lymphedema, congenital |
N/A |
N/A |
No information
|
| Pachyonychia congenital syndrome |
N/A |
N/A |
No information
|
| Popliteal pterygium syndrome |
N/A |
N/A |
No information
|
| Green nail syndrome |
N/A |
N/A |
No information
|
| Hallux Rigidus |
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 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
|
| Stickler's syndrome |
N/A |
N/A |
No information
|
| Stickler Syndrome |
approx 1 in 7,500 or 0.01% or 36,266 people in USA |
36,266 |
estimated 1 per 7,500 - 9,000 newborns suffer from Stickler syndrome, Genetics Home Reference website
|
| Stickler Syndrome, type II |
N/A |
N/A |
No information
|
| Stickler Syndrome, type III |
N/A |
N/A |
No information
|
| Stickler Syndrome, type I |
N/A |
N/A |
No information
|
| Multiple synostosis syndrome |
N/A |
N/A |
No information
|
| Isaacs syndrome |
N/A |
N/A |
No information
|
| Tooth and Nail syndrome |
N/A |
N/A |
No information
|
| Yellow nail syndrome |
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
|
| Short stature -- contractures -- hypotonia |
N/A |
N/A |
No information
|
| Craniomicromelic syndrome |
N/A |
N/A |
No information
|
| Digitorenocerebral syndrome |
N/A |
N/A |
No information
|
| Leukonychia totalis |
N/A |
N/A |
No information
|
| Knuckle pads, leukonychia and sensorineural deafness |
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
|
| 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
|
| Erythermalgia |
N/A |
N/A |
No information
|
| Anonychia -- microcephaly |
N/A |
N/A |
No information
|
| Skeletal dysplasia, San Diego type |
N/A |
N/A |
No information
|
| Pelvic-shoulder dysplasia |
N/A |
N/A |
No information
|
| Femur-fibula-ulna syndrome |
N/A |
N/A |
No information
|
| Spondyloepimetaphyseal dysplasia with joint laxity |
N/A |
N/A |
No information
|
| Tarsal carpal coalition syndrome |
N/A |
N/A |
No information
|
| Teeth noneruption of with maxillary hypoplasia and genu valgum |
N/A |
N/A |
No information
|
| Odontomicronychial dysplasia |
N/A |
N/A |
No information
|
| Septooptic dysplasia -- digital anomalies |
N/A |
N/A |
No information
|
| Odontoonychodermal dysplasia |
N/A |
N/A |
No information
|
| Primerose syndrome |
N/A |
N/A |
No information
|
| Radio-ulnar synostosis type 2 |
N/A |
N/A |
No information
|
| Ankyloglossia -- heterochromia -- clasped thumbs |
N/A |
N/A |
No information
|
| Oculodigitoesophagoduodenal syndrome |
N/A |
N/A |
No information
|
| Spastic paraplegia with Kallmann syndrome |
N/A |
N/A |
No information
|
| Syndactyly -- cataract -- mental retardation |
N/A |
N/A |
No information
|
| Facial dysmorphism -- shawl scrotum -- joint laxity syndrome |
N/A |
N/A |
No information
|
| Thumb deformity, alopecia, pigmentation anomaly |
N/A |
N/A |
No information
|
| Tsao-Ellingson syndrome |
N/A |
N/A |
No information
|
| Odonto onycho dysplasia with alopecia |
N/A |
N/A |
No information
|
| Dinno-Shearer-Weisskopf syndrome |
N/A |
N/A |
No information
|
| Otoonychoperoneal syndrome |
N/A |
N/A |
No information
|
| Spondyloepimetaphyseal dysplasia, micromelic |
N/A |
N/A |
No information
|
| Marfanoid -- mental retardation syndrome autosomal |
N/A |
N/A |
No information
|
| Ectodermal dysplasia -- neurosensory deafness |
N/A |
N/A |
No information
|
| Spondyloepimetaphyseal dysplasia congenita, Iraqi |
N/A |
N/A |
No information
|
| Thumb absent -- short stature -- immune deficiency |
N/A |
N/A |
No information
|
| Pachyonychia congenita recessive |
N/A |
N/A |
No information
|
| Humerus, trochlea, aplasia of |
N/A |
N/A |
No information
|
| Sacral plexopathy |
N/A |
N/A |
No information
|
| Skeletal dysplasia -- coarse facies -- mental retardation |
N/A |
N/A |
No information
|
| Parkes-Weber syndrome I |
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
|
| Iris coloboma, macrocephaly, agenesis of the corpus callosum, brachydactyly and mental retardation |
N/A |
N/A |
No information
|
| Coloboma of macula, type B brachydactyly |
N/A |
N/A |
No information
|
| Lethal congenital contracture syndrome 1 |
N/A |
N/A |
No information
|
| Lethal congenital contracture syndrome 2 |
N/A |
N/A |
No information
|
| Accessory deep peroneal nerve |
N/A |
N/A |
No information
|
| Common peroneal nerve dysfunction |
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
|
| Familial hematuria, autosomal dominant -- retinal arteriolar tortuosity -- contractures |
N/A |
N/A |
No information
|
| Neuronopathy, distal hereditary motor, type IIB |
N/A |
N/A |
No information
|
| Gnathodiaphyseal dysplasia |
N/A |
N/A |
No information
|
| Long thumb brachydactyly, maxillary hypoplasia, mental retardation and unusual facies |
N/A |
N/A |
No information
|
| Unusual facies, preauricular pits, fifth finger clinodactyly and tetralogy of Fallot |
N/A |
N/A |
No information
|
| Digital arthropathy-brachydactyly, familial |
N/A |
N/A |
No information
|
| Acroparesthesia syndrome |
N/A |
N/A |
No information
|
| Osteoporosis -- macrocephaly -- blindness -- joint hyperlaxity |
N/A |
N/A |
No information
|
| Acropectoral syndrome |
N/A |
N/A |
No information
|
| Acrodysplasia scoliosis |
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
|
| Amelo-onycho-hypohidrotic syndrome |
N/A |
N/A |
No information
|
| Clayton-Smith Donnai syndrome |
N/A |
N/A |
No information
|
| Bowing of legs, anterior, with dwarfism |
N/A |
N/A |
No information
|
| Brachydactylous dwarfism, Mseleni type |
N/A |
N/A |
No information
|
| Short stature locking fingers |
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
|
| Macrocephaly -- short stature -- paraplegia |
N/A |
N/A |
No information
|
| Onycho-tricho-dysplasia -- neutropenia |
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
|
| Blepharophimosis ptosis esotropia syndactyly short |
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
|
| Bone dysplasia Moore type |
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
|
| Limb-mammary syndrome |
N/A |
N/A |
No information
|
| Robin sequence oligodactyly |
N/A |
N/A |
No information
|
| Hallux limitus |
N/A |
N/A |
No information
|
| Macrocephaly, rhizomelia and conductive hearing loss |
N/A |
N/A |
No information
|
| Hydrops fetalis -- anaemia -- immune disorder -- absent thumb |
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
|
| Growth retardation mental retardation phalangeal hypoplasia |
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
|
| Krieble Bixler syndrome |
N/A |
N/A |
No information
|
| Mesomelic dysplasia, Camera type |
N/A |
N/A |
No information
|
| Mesomelia radial hypoplasia bifid thumb unusual facies |
N/A |
N/A |
No information
|
| Infantile spasms -- broad thumbs |
N/A |
N/A |
No information
|
| Idiopathic edema |
N/A |
N/A |
No information
|
| Hereditary vascular retinopathie -- Raynaud phenomenon -- migraine |
N/A |
N/A |
No information
|
| Ossification anomalies -- psychomotor development |
N/A |
N/A |
No information
|
| Houlston ironton temple syndrome de |
N/A |
N/A |
No information
|
| Koussef nichols syndrome |
N/A |
N/A |
No information
|
| Toe syndactyly, telecanthus, and anogenital and renal malformations |
N/A |
N/A |
No information
|
| Hand-Foot-Mouth Syndrome |
N/A |
N/A |
No information
|
| Lethal congenital contracture syndrome (LCCS) |
N/A |
N/A |
No information
|
| Unusual facies, hypotonia, mental retardation and radioulnar synostosis |
N/A |
N/A |
No information
|
| Double nails on the fifth toe |
N/A |
N/A |
No information
|
| Bruck syndrome 1 |
N/A |
N/A |
No information
|
| Bruck syndrome, 2 |
N/A |
N/A |
No information
|
| Craniofacial -- deafness -- hand syndrome |
N/A |
N/A |
No information
|
| Radio digito -- facial dysplasia |
N/A |
N/A |
No information
|
| Short limb dwarf mental retardation myopia |
N/A |
N/A |
No information
|
| Monomelic Amyotrophy |
N/A |
N/A |
No information
|
| Podagra |
N/A |
N/A |
No information
|
| Buerger's disease |
N/A |
N/A |
No information
|
| Chilblain |
N/A |
N/A |
No information
|
| McCune-Albright Syndrome |
N/A |
N/A |
No information
|
| Marfan syndrome |
approx 1 in 5,000 or 0.02% or 54,400 people in USA |
54,399 |
1 per 5,000 people are affected by Marfan syndrome worldwide, Genetics Home Reference website
|
| Onychogryphosis |
N/A |
N/A |
No information
|
| Osteochondritis Dissecans |
N/A |
N/A |
No information
|
| Familial Articular Chondrocalcinosis |
N/A |
N/A |
No information
|
| Clubfoot |
N/A |
N/A |
No information
|
| Apert syndrome |
approx 1 in 100,000 or 0.00% or 2,720 people in USA |
2,720 |
1 per 100,000 people suffer from Apert syndrome, Genetics Home Reference website
|
| Whitlow |
N/A |
N/A |
No information
|
| Meralgia paresthetica |
N/A |
N/A |
No information
|
| Morton's Neuroma |
N/A |
N/A |
No information
|
| Brachial Neuritis |
N/A |
N/A |
No information
|
| Compartment Syndrome |
N/A |
N/A |
No information
|
| Nail-Patella Syndrome |
N/A |
N/A |
No information
|
| Acrodysostosis |
N/A |
N/A |
No information
|
| Cronkhite-Canada Syndrome |
N/A |
N/A |
No information
|
| Dyschondrosteosis |
N/A |
N/A |
No information
|
| MASA Syndrome |
N/A |
N/A |
No information
|
| Sclerosteosis |
N/A |
N/A |
No information
|
| Weismann-Netter-Stuhl 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
|
| Cerebrorenodigital syndrome |
N/A |
N/A |
No information
|
| Elephant man in context of NF |
N/A |
N/A |
No information
|
| Ruvalcaba-Myhre-Smith Syndrome |
N/A |
N/A |
No information
|
| Zimmerman-Laband syndrome |
N/A |
N/A |
No information
|
| Antley-Bixler Syndrome |
N/A |
N/A |
No information
|
| Pachydermoperiostosis |
N/A |
N/A |
No information
|
| Baller-Gerold Syndrome |
N/A |
N/A |
No information
|
| Nager Syndrome |
N/A |
N/A |
No information
|
| Pallister-Hall Syndrome |
N/A |
N/A |
No information
|
| Meleda Disease |
N/A |
N/A |
No information
|
| Laband Syndrome |
N/A |
N/A |
No information
|
| Laurence-Moon Syndrome |
N/A |
N/A |
No information
|
| Schinzel Syndrome |
N/A |
N/A |
No information
|
| Roberts Pseudothalidomide Syndrome |
N/A |
N/A |
No information
|
| C-like syndrome |
N/A |
N/A |
No information
|
| Chondrodystrophia calcificans congenita |
N/A |
N/A |
No information
|
| Conradi-Huenermann Syndrome |
N/A |
N/A |
No information
|
| Acrosphenosyndactylia |
N/A |
N/A |
No information
|
| Jequier-Kozlowski-skeletal dysplasia |
N/A |
N/A |
No information
|
| Pachyonychia congenital syndrome type I |
N/A |
N/A |
No information
|
| Chondrodystrophy |
N/A |
N/A |
No information
|
| Chondrodysplasia, Grebe type |
N/A |
N/A |
No information
|
| Metaphyseal chondrodysplasia Schmid type |
N/A |
N/A |
No information
|
| Fingerprints absence -- syndactyly -- milia |
N/A |
N/A |
No information
|
| Eyebrow Duplication -- Stretchable Skin -- Syndactyly |
N/A |
N/A |
No information
|
| Stuve-Wiedemann syndrome |
N/A |
N/A |
No information
|
| Stuve-Wiedemann dysplasia |
N/A |
N/A |
No information
|
| Camera Costa 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
|
| Pfeiffer-Weber-Christian syndrome |
N/A |
N/A |
No information
|
| Edwards-Gale Syndrome |
N/A |
N/A |
No information
|
| Claudication pain |
N/A |
N/A |
No information
|
| Dancing Eye syndrome |
N/A |
N/A |
No information
|
| Hip dysplasia -- enchondromata -- ecchondromata |
N/A |
N/A |
No information
|
| Segawa syndrome, autosomal dominant |
N/A |
N/A |
No information
|
| Segawa syndrome, autosomal recessive |
N/A |
N/A |
No information
|
| Limited cutaneous systemic sclerosis |
N/A |
N/A |
No information
|
| Meige's lymphedema |
N/A |
N/A |
No information
|
| Craniofacial conodysplasia |
N/A |
N/A |
No information
|
| Eiken syndrome |
N/A |
N/A |
No information
|
| Erdheim-Chester syndrome |
N/A |
N/A |
No information
|
| Gamborg nielsen syndrome |
N/A |
N/A |
No information
|
| Gollop Coates syndrome |
N/A |
N/A |
No information
|
| Goossens-Devriendt syndrome |
N/A |
N/A |
No information
|
| Kumar levick syndrome |
N/A |
N/A |
No information
|
| Levy-Yeboa Syndrome |
N/A |
N/A |
No information
|
| Madelung deformity |
N/A |
N/A |
No information
|
| MADSAM |
N/A |
N/A |
No information
|
| Mandibuloacral dysplasia |
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
|
| Rudiger syndrome |
N/A |
N/A |
No information
|
| Segawa Syndrome |
N/A |
N/A |
No information
|
| Trigger thumb |
N/A |
N/A |
No information
|
| Ribbing syndrome |
N/A |
N/A |
No information
|
| Rot-Bernhardt syndrome |
N/A |
N/A |
No information
|
| Satoyoshi syndrome 2 |
N/A |
N/A |
No information
|
| Schafer syndrome |
N/A |
N/A |
No information
|
| Shell nail syndrome |
N/A |
N/A |
No information
|
| Tizzard syndrome |
N/A |
N/A |
No information
|
| Troell-Junet syndrome |
N/A |
N/A |
No information
|
| Wiedemann-Tolksdorf syndrome |
N/A |
N/A |
No information
|
| Skewfoot |
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
|
| Spondyloepimetaphyseal dysplasia, genevieve type |
N/A |
N/A |
No information
|
| Brunzell syndrome |
N/A |
N/A |
No information
|
| Bruck syndrome |
N/A |
N/A |
No information
|
| Odonto-tricho-ungual-digito-palmarn syndrome |
N/A |
N/A |
No information
|
| Whistling face syndrome, recessive form |
N/A |
N/A |
No information
|
| Grob syndrome |
N/A |
N/A |
No information
|
| Howship-Romberg syndrome |
N/A |
N/A |
No information
|
| Hunter-Fraser syndrome |
N/A |
N/A |
No information
|
| Ives-Houston syndrome |
N/A |
N/A |
No information
|
| Kashin-Bek disease |
N/A |
N/A |
No information
|
| Macrodactyly -- Hemihypertrophy -- Connective tissue nevi syndrome |
N/A |
N/A |
No information
|
| Majocchi disease |
N/A |
N/A |
No information
|
| McLetchie-Aikens syndrome |
N/A |
N/A |
No information
|
| Moynahan syndrome III |
N/A |
N/A |
No information
|
| Phillips-Griffiths syndrome |
N/A |
N/A |
No information
|
| Pratesi syndrome |
N/A |
N/A |
No information
|
| Renon-Delille syndrome |
N/A |
N/A |
No information
|
| Cardiomelic syndrome Stratton Koehler type |
N/A |
N/A |
No information
|
| Richieri-Costa-Orquizas syndrome |
N/A |
N/A |
No information
|
| Ectodermal dysplasia, Margarita type |
N/A |
N/A |
No information
|
| De Quervains' disease |
N/A |
N/A |
No information
|
| Billet-Bear syndrome |
N/A |
N/A |
No information
|
| Charlie M syndrome |
N/A |
N/A |
No information
|
| Pseudoainhum |
N/A |
N/A |
No information
|
| Infantile digital fibromatosis |
N/A |
N/A |
No information
|
| Familial streblodactyly |
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
|
| Horn-Kolb syndrome |
N/A |
N/A |
No information
|
| Ho Kaufman-Mcalister syndrome |
N/A |
N/A |
No information
|
| Lipodermatosclerosis |
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
|
| 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
|
| Filaminopathy, autosomal dominant |
N/A |
N/A |
No information
|
| Dysostosis peripheral |
N/A |
N/A |
No information
|
| Kantaputra-Gorlin syndrome |
N/A |
N/A |
No information
|
| Bruyn-Scheltens syndrome |
N/A |
N/A |
No information
|
| Johnson-Hall-Krous 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
|
| Cortada-Kousseff-Matsumoto syndrome |
N/A |
N/A |
No information
|
| Frints -- De Smet -- Fabry -- Fryns syndrome |
N/A |
N/A |
No information
|
| Cataract, alopecia, sclerodactyly |
N/A |
N/A |
No information
|
| Calabro syndrome |
N/A |
N/A |
No information
|
| Choledochal cyst, hand malformation |
N/A |
N/A |
No information
|
| Hypertrichosis brachydactyly obesity and mental retardation |
N/A |
N/A |
No information
|
| Idaho syndrome |
N/A |
N/A |
No information
|
| Macleod-Fraser syndrome |
N/A |
N/A |
No information
|
| Campomelia Cumming type |
N/A |
N/A |
No information
|
| Bowing of long bones congenital |
N/A |
N/A |
No information
|
| Acral dysostosis -- dyserythropoiesis |
N/A |
N/A |
No information
|
| Alopecia universalis -- onychodystrophy -- vitiligo |
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
|
| Acanthosis nigricans muscle cramps acral enlargement |
N/A |
N/A |
No information
|
| Brachioskeletogenital syndrome |
N/A |
N/A |
No information
|
| Hypomelia -- mullerian duct anomalies |
N/A |
N/A |
No information
|
| Acromesomelic dysplasia Campailla Martinelli type |
N/A |
N/A |
No information
|
| Fraser-Jequier-Chen syndrome |
N/A |
N/A |
No information
|
| Cramp-fasciculations syndrome |
N/A |
N/A |
No information
|
| Cerebrorenodigital syndrome with limb malformations and triradiate acetabula |
N/A |
N/A |
No information
|
| Laurence-Prosser-Rocker syndrome |
N/A |
N/A |
No information
|
| Elattoproteus syndrome |
N/A |
N/A |
No information
|
| Johnson-Munson syndrome |
N/A |
N/A |
No information
|
| Brugsch's syndrome |
N/A |
N/A |
No information
|
| Alajouanine syndrome |
N/A |
N/A |
No information
|
| Baerensprung disease |
N/A |
N/A |
No information
|
| Bartenwerfer syndrome |
N/A |
N/A |
No information
|
| Berger paresthesia |
N/A |
N/A |
No information
|
| Berndorfer syndrome |
N/A |
N/A |
No information
|
| Bluefarb-Stewart syndrome |
N/A |
N/A |
No information
|
| Braun-Bayer syndrome |
N/A |
N/A |
No information
|
| Bruns-Garland syndrome |
N/A |
N/A |
No information
|
| Cervenka's syndrome |
N/A |
N/A |
No information
|
| Chapple syndrome |
N/A |
N/A |
No information
|
| Milner-Khallouf-Gibson syndrome |
N/A |
N/A |
No information
|
| Maroteaux-Fonfria syndrome |
N/A |
N/A |
No information
|
| Richieri-Costa-Silveira-Pereira syndrome |
N/A |
N/A |
No information
|
| Orstavik-Lindemann-Solberg syndrome |
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
|
| 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
|
| Samson-Gardner syndrome |
N/A |
N/A |
No information
|
| Muller-Barth-Menger syndrome |
N/A |
N/A |
No information
|
| Short limb dwarfism, Al Gazali type |
N/A |
N/A |
No information
|
| Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch |
N/A |
N/A |
No information
|
| Schwartz-Lelek syndrome |
N/A |
N/A |
No information
|
| Pfeiffer-Tietze-Welte syndrome |
N/A |
N/A |
No information
|
| Howard-Young syndrome |
N/A |
N/A |
No information
|
| Rasmussen-Johnsen-Thomsen syndrome |
N/A |
N/A |
No information
|
| Harrod Doman Keele syndrome |
N/A |
N/A |
No information
|
| Trochlear dysplasia |
N/A |
N/A |
No information
|
| Pseudopapilledema -- blepharophimosis -- hand anomalies |
N/A |
N/A |
No information
|
| Radio renal syndrome |
N/A |
N/A |
No information
|
| Eyebrows duplication of, with stretchable skin and syndactyly |
N/A |
N/A |
No information
|
| Hapnes-Boman-Skeie syndrome |
N/A |
N/A |
No information
|
| Lateral body wall complex |
N/A |
N/A |
No information
|
| Ghosal syndrome |
N/A |
N/A |
No information
|
| Aphalangia -- syndactyly -- microcephaly |
N/A |
N/A |
No information
|
| Oro acral syndrome |
N/A |
N/A |
No information
|
| Chemke-Oliver-Mallek syndrome |
N/A |
N/A |
No information
|
| Robin sequence and oligodactyly |
N/A |
N/A |
No information
|
| Kaplan-Plauchu-Fitch syndrome |
N/A |
N/A |
No information
|
| Richieri-Costa Da Silva syndrome |
N/A |
N/A |
No information
|
| Say-Field-Coldwell syndrome |
N/A |
N/A |
No information
|
| Auralcephalosyndactyly |
N/A |
N/A |
No information
|
| Furlong-Kurczynski-Hennessy syndrome |
N/A |
N/A |
No information
|
| Rhizomelic dysplasia Patterson Lowry type |
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
|
| Fontaine-Farriaux-Blanckaert syndrome |
N/A |
N/A |
No information
|
| Rhizomelic syndrome |
N/A |
N/A |
No information
|
| Impossible syndrome |
N/A |
N/A |
No information
|
| Dermatopathia pigmentosa reticularis |
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
|
| Elliott-Ludman-Teebi 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
|
| Judge-Misch-Wright syndrome |
N/A |
N/A |
No information
|
| Metaphyseal acroscyphodysplasia |
N/A |
N/A |
No information
|
| Hyperphalangism -- dysmorphy -- bronchomalacia |
N/A |
N/A |
No information
|
| Axial mesodermal dysplasia spectrum |
N/A |
N/A |
No information
|
| Short limb dwarf lethal, Mcalister Crane type |
N/A |
N/A |
No information
|
| Eng Strom syndrome |
N/A |
N/A |
No information
|
| Talipes equinovarus |
N/A |
N/A |
No information
|
| Thoracolimb dysplasia, Rivera type |
N/A |
N/A |
No information
|
| Czeizel-Losonci syndrome |
N/A |
N/A |
No information
|
| Manouvrier 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
|
| Trueb-Burg-Bottani syndrome |
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
|
| Sclerocornea, Syndactyly, ambiguous genitalia |
N/A |
N/A |
No information
|
| Imaizumi Kuroki syndrome |
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
|
| 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
|
| 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
|
| 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
|
| Herrmann-Opitz craniosynostosi |
N/A |
N/A |
No information
|
| Patterson-Stevenson syndrome |
N/A |
N/A |
No information
|
| FACES syndrome |
N/A |
N/A |
No information
|
| ECP syndrome |
N/A |
N/A |
No information
|
| Daneman Davy Mancer syndrome |
N/A |
N/A |
No information
|
| Ischiopatellar dysplasia |
N/A |
N/A |
No information
|
| 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
|
| Powell-Chandra-Saal syndrome |
N/A |
N/A |
No information
|
| Symphalangism distal |
N/A |
N/A |
No information
|
| Oculo cerebro acral syndrome |
N/A |
N/A |
No information
|
| Frias syndrome |
N/A |
N/A |
No information
|
| Pfeiffer-Mayer syndrome |
N/A |
N/A |
No information
|
| Schlegelberger-Grote 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
|
| Aplasia cutis congenita of limbs recessive |
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
|
| Irons-Bhan syndrome |
N/A |
N/A |
No information
|
| McDonough 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
|
| Sackey-Sakati-Aur syndrome |
N/A |
N/A |
No information
|
| Freire-Maia odontotrichomelic syndrome |
N/A |
N/A |
No information
|
| Culler-Jones syndrome |
N/A |
N/A |
No information
|
| Dincsoy-Salih-Patel syndrome |
N/A |
N/A |
No information
|
| Collins-Pope syndrome |
N/A |
N/A |
No information
|
| Sommer-Hines syndrome |
N/A |
N/A |
No information
|
| Tsukuhara syndrome |
N/A |
N/A |
No information
|
| Engelhard-Yatziv syndrome |
N/A |
N/A |
No information
|
| Sequeiros-Sack syndrome |
N/A |
N/A |
No information
|
| Timothy syndrome |
N/A |
N/A |
No information
|
| Garret-Tripp syndrome |
N/A |
N/A |
No information
|
| Spastic ataxia, Charlevoix-Saguenay type |
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
|
| Kosztolanyi 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
|
| Ectodermal dysplasia trichoodontoonychial type |
N/A |
N/A |
No information
|
| Spranger-Schinzel-Myers syndrome |
N/A |
N/A |
No information
|
| Char 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
|
| Hoon-Hall syndrome |
N/A |
N/A |
No information
|
| Sallis-Beighton syndrome |
N/A |
N/A |
No information
|
| Hunter-McAlpine syndrome |
N/A |
N/A |
No information
|
| Dejerine-Klumpke syndrome |
N/A |
N/A |
No information
|
| Illum syndrome |
N/A |
N/A |
No information
|
| Acrokeratoelastoidosis of Costa |
N/A |
N/A |
No information
|
| Lanzietri syndrome |
N/A |
N/A |
No information
|
| Sclerotylosis |
N/A |
N/A |
No information
|
| Rosenberg-Lohr syndrome |
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
|
| 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
|
| 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
|
| 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 |
approx 1 in 20,000 or 0.00% or 13,600 people in USA |
13,599 |
1 per 20,000 - 50,000 newborns are affected by Thanatophoric dysplasia, Genetics Home Reference website
|
| Buttiens-Fryns syndrome |
N/A |
N/A |
No information
|
| Brachytelephalangy, characteristic facies, Kallmann |
N/A |
N/A |
No information
|
| Bhaskar-Jagannathan syndrome |
N/A |
N/A |
No information
|
| Bagatelle-Cassidy syndrome |
N/A |
N/A |
No information
|
| Carnevale-Hernandez-Castillo syndrome |
N/A |
N/A |
No information
|
| Crisponi syndrome |
N/A |
N/A |
No information
|
| Bazopoulou-Kyrkanidou syndrome |
N/A |
N/A |
No information
|
| Blount disease |
N/A |
N/A |
No information
|
| BOD syndrome |
N/A |
N/A |
No information
|
| Grand-Kaine-Fulling syndrome |
N/A |
N/A |
No information
|
| Carnevale-Canun-Mendoza 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
|
| Chitayat Meunier Hodgkinson syndrome |
N/A |
N/A |
No information
|
| Game-Friedman-Paradice syndrome |
N/A |
N/A |
No information
|
| Lower limb anomaly -- ureteral obstruction |
N/A |
N/A |
No information
|
| Thin ribs -- tubular bones -- dysmorphism |
N/A |
N/A |
No information
|
| Fitzsimmons-Guilbert syndrome |
N/A |
N/A |
No information
|
| Roy-Maroteaux-Kremp syndrome |
N/A |
N/A |
No information
|
| Maroteaux-Stanescu-Cousin syndrome |
N/A |
N/A |
No information
|
| Cranioacrofacial 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
|
| Cote-Katsantoni syndrome |
N/A |
N/A |
No information
|
| Seemanova-Lesny syndrome |
N/A |
N/A |
No information
|
| Desbuquois syndrome |
N/A |
N/A |
No information
|
| Thieffry and Sorrell Dejerine syndrome |
N/A |
N/A |
No information
|
| Lujan-Fryns syndrome |
N/A |
N/A |
No information
|
| Reese-Ellsworth 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
|
| Ledderhose disease |
N/A |
N/A |
No information
|
| Acrofacial dysostosis, Weyers type |
N/A |
N/A |
No information
|
| Ballard syndrome |
N/A |
N/A |
No information
|
| Sheffield syndrome |
N/A |
N/A |
No information
|
| 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
|
| De Lange 1 |
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
|
| GOMBO syndrome |
N/A |
N/A |
No information
|
| Marsden syndrome |
N/A |
N/A |
No information
|
| Davis syndrome |
N/A |
N/A |
No information
|
| Karsch-Neugenbauer syndrome |
N/A |
N/A |
No information
|
| SAPHO syndrome |
N/A |
N/A |
No information
|
| Grant syndrome |
N/A |
N/A |
No information
|
| Tylosis |
N/A |
N/A |
No information
|
| Fairbank disease |
N/A |
N/A |
No information
|
| Touraine-Solente-Gole syndrome |
N/A |
N/A |
No information
|
| Kienbock disease |
N/A |
N/A |
No information
|
| Freiberg disease |
N/A |
N/A |
No information
|
| Kohler disease |
N/A |
N/A |
No information
|
| Sulfatidosis juvenile, Austin type |
N/A |
N/A |
No information
|
| Cranioectodermal dysplasia |
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
|
| Mietens syndrome |
N/A |
N/A |
No information
|
| Juberg-Hayward syndrome |
N/A |
N/A |
No information
|
| Levine-Critchley syndrome |
N/A |
N/A |
No information
|
| Scott syndrome |
N/A |
N/A |
No information
|
| Roberts syndrome |
N/A |
N/A |
No information
|
| Muckle-Wells syndrome |
N/A |
N/A |
No information
|
| Vohwinkel 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
|
| Parsonage Turner 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
|
| Weleber Hecht Bigley syndrome |
N/A |
N/A |
No information
|
| Yim Ebbin syndrome |
N/A |
N/A |
No information
|
| Verloes-David Syndrome |
N/A |
N/A |
No information
|
| Wiedemann Oldigs Oppermann syndrome |
N/A |
N/A |
No information
|
| Willems De vries syndrome |
N/A |
N/A |
No information
|
| Viljone Kallis Voges syndrome |
N/A |
N/A |
No information
|
| Verloove Vanhorick Brubakk syndrome |
N/A |
N/A |
No information
|
| Verloes Bourguignon syndrome |
N/A |
N/A |
No information
|
| Walbaum Titran Durieux Crepin syndrome |
N/A |
N/A |
No information
|
| Worster Drought syndrome |
N/A |
N/A |
No information
|
| Wallerian degeneration |
N/A |
N/A |
No information
|
| Westphal disease |
N/A |
N/A |
No information
|
| Von voss Cherstvoy syndrome |
N/A |
N/A |
No information
|
| Vertical talus, congenital |
N/A |
N/A |
No information
|
| 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
|
| Zlotogora 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
|
| Schneckenbecken dysplasia |
N/A |
N/A |
No information
|
| Elejalde syndrome |
N/A |
N/A |
No information
|
| Marie-Bamberg syndrome |
N/A |
N/A |
No information
|
| Dahlberg syndrome |
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
|
| Sillence syndrome |
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
|
| Kuskokwim disease |
N/A |
N/A |
No information
|
| Lymphangiectasies and lymphedema Hennekam type |
N/A |
N/A |
No information
|
| Lewis (F.) 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
|
| Osteoglophonic dwarfism |
N/A |
N/A |
No information
|
| Nievergelt syndrome |
N/A |
N/A |
No information
|
| Mesomelic dwarfism Reinhardt-Pfeiffer type |
N/A |
N/A |
No information
|
| Opsismodysplasia |
N/A |
N/A |
No information
|
| Frontometaphyseal dysplasia |
N/A |
N/A |
No information
|
| Krause-Kivlin syndrome |
N/A |
N/A |
No information
|
| Oromandibular-limb hypogenesis spectrum |
N/A |
N/A |
No information
|
| Yunis Varon syndrome |
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
|
| Sirenomelia |
N/A |
N/A |
No information
|
| Femoral facial syndrome |
N/A |
N/A |
No information
|
| Craniometaphyseal dysplasia, autosomal recessive type |
N/A |
N/A |
No information
|
| EEC syndrome |
N/A |
N/A |
No information
|
| Fibrochondrogenesis |
N/A |
N/A |
No information
|
| Grebe Syndrome |
N/A |
N/A |
No information
|
| Beals syndrome |
N/A |
N/A |
No information
|
| Hecht syndrome |
N/A |
N/A |
No information
|
| Geleophysic dwarfism |
N/A |
N/A |
No information
|
| Limb-body wall complex |
N/A |
N/A |
No information
|
| Blepharophimosis, ptosis, epicanthus inversus |
N/A |
N/A |
No information
|
| Nevus sebaceous of Jadassohn |
N/A |
N/A |
No information
|
| TAR syndrome |
N/A |
N/A |
No information
|
| Ablepharon macrostomia 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
|
| 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
|
| 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
|
| Venencie Powell Winkelmann syndrome |
N/A |
N/A |
No information
|
| Upton Young syndrome |
N/A |
N/A |
No information
|
| Vagneur Triolle Ripert 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
|
| Behr syndrome |
N/A |
N/A |
No information
|
| Wieacker syndrome |
N/A |
N/A |
No information
|
| MSBD syndrome |
N/A |
N/A |
No information
|
| Sakati syndrome |
N/A |
N/A |
No information
|
| Cayler 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
|
| Acro-reno-ocular syndrome |
N/A |
N/A |
No information
|
The medical term 'prevalence' of Limb conditions usually refers to the estimated population
of people who are managing Limb conditions at any given time,
whereas the annual diagnosis rate of new cases of Limb conditions is called the 'incidence'.
For more information on prevalence and incidence statistics, see about prevalence and incidence statistics.
