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Proximal symphalangism
2 OMIM references -
2 associated genes
25 connected diseases
15 signs/symptoms
Disease Type of connection
Multiple synostoses syndrome
Brachydactyly type A2
Brachydactyly type C
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Angel-shaped phalango-epiphyseal dysplasia
Brachydactyly type A1
Brachydactyly type B2
Fibular aplasia - complex brachydactyly
Stapes ankylosis with broad thumbs and toes
Tarsal-carpal coalition syndrome
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Juvenile polyposis of infancy
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Pulmonary venoocclusive disease
20p12.3 microdeletion syndrome
Fibrodysplasia ossificans progressiva
Situs ambiguus
Estrogen resistance syndrome
14q22q23 microdeletion syndrome
Microphthalmia with brain and digit anomalies
CARASIL
Synonym(s):
- Symphalangism, Cushing type
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C536223
Gene symbol UniProt reference OMIM reference
GDF5 P43026601146
NOG Q13253602991
Very frequent
- Autosomal dominant inheritance
- Camptodactyly of some fingers
- Carpal bones fusion / synostosis
- Symphalangy of fingers
- Tarsal anomaly / fusion / synostosis

Frequent
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Elbow dislocation
- Humeroradial fusion
- Metacarpal anomalies / Archibald's sign
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly

Occasional
- Clinodactyly of fifth finger
- Strabismus / squint
- Syndactyly of fingers / interdigital palm
- Wrist / carpal anomalies