Brachydactyly type E
ORPHA:93387· ICD-10 Q73.8
Definition
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal