Brachydactyly type A1
Brachydactyly type A1
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.
Also known as BDA1, brachydactyly, Farabee type — per MONDO