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1 OMIM reference -
2 associated genes
11 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8
3 OMIM references -
2 associated genes
13 signs/symptoms
Brachydactyly type C
Brachydactyly type A1

BMPR1B GDF5
GDF5 IHH


COMMON
GENES
GDF5


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Brachydactyly type C
BMPR1B GDF5
Brachydactyly type A1
IHH



Brachydactyly type C
Brachydactyly type A1

Synonym(s):
(no synonyms)

Synonym(s):
- Brachydactyly, Farabee type

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:
1 OMIM reference -
1 MeSH reference: C537093
External references:
3 OMIM references -
1 MeSH reference: C537088


COMMON
SIGNS
- Autosomal dominant inheritance
- Clinodactyly of fifth finger
- Cone epiphyses / epiphysis
- Metacarpal anomalies / Archibald's sign
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Symphalangy of fingers


Brachydactyly type C
Brachydactyly type A1

Very frequent
- Ulnar deviation of fingers

Frequent
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Talipes-valgus


Very frequent
- Short big toe
- Thumb hypoplasia / aplasia / absence

Occasional
- Scoliosis
- Talipes-varus / metatarsal varus
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray