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2 OMIM references -
2 associated genes
15 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
1 OMIM reference -
2 associated genes
11 signs/symptoms
Proximal symphalangism
Brachydactyly type C

GDF5 BMPR1B
NOG GDF5


COMMON
GENES
GDF5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GDF5
(0.9)
BMPR1B



Citations in the biomedical literature:


Proximal symphalangism
GDF5 NOG
Brachydactyly type C
BMPR1B



Proximal symphalangism
Brachydactyly type C

Synonym(s):
- Symphalangism, Cushing type

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
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
External references:
1 OMIM reference -
1 MeSH reference: C537093


COMMON
SIGNS
- Autosomal dominant inheritance
- Clinodactyly of fifth finger
- Metacarpal anomalies / Archibald's sign
- Short hand / brachydactyly
- Symphalangy of fingers


Proximal symphalangism
Brachydactyly type C

Very frequent
- Camptodactyly of some fingers
- Carpal bones fusion / synostosis
- Tarsal anomaly / fusion / synostosis

Frequent
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Elbow dislocation
- Humeroradial fusion
- Sensorineural deafness / hearing loss

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


Very frequent
- Ulnar deviation of fingers

Frequent
- Cone epiphyses / epiphysis
- Short foot / brachydactyly of toes
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Short stature / dwarfism / nanism
- Talipes-valgus