Brachydactyly type C
ORPHA:93384· ICD-10 Q73.8
Definition
A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal