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1 OMIM reference -
2 associated genes
11 signs/symptoms
COMMON GENES: 2
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 5
1 OMIM reference -
3 associated genes
6 signs/symptoms
Brachydactyly type C
Brachydactyly type A2

BMPR1B BMP2
GDF5 BMPR1B
GDF5


COMMON
GENES
BMPR1B
GDF5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BMPR1B
BMPR1B
(0.9)
(0.9)
BMP2
GDF5



Citations in the biomedical literature:


Brachydactyly type C
BMPR1B GDF5
Brachydactyly type A2
BMP2



Brachydactyly type C
Brachydactyly type A2

Synonym(s):
(no synonyms)

Synonym(s):
- Brachydactyly, Mohr-Wriedt 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: <1 / 1 000 000
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:
1 OMIM reference -
1 MeSH reference: C537089


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


Brachydactyly type C
Brachydactyly type A2

Very frequent
- Ulnar deviation of fingers

Frequent
- Cone epiphyses / epiphysis
- Thin / hypoplastic / hyperconvex fingernails

Occasional
- Short stature / dwarfism / nanism
- Symphalangy of fingers
- Talipes-valgus


Occasional
- Terminal / third phalangeal bone of fingers hypoplasia