Brachydactyly type A1
ORPHA:93388· ICD-10 Q73.8
Definition
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal