brachydactyly type A1

A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.

Signs and symptoms

• Short palm
• Short stature
• Brachydactyly
• Absent distal interphalangeal creases
• Short metacarpal
• Flattened metatarsal heads
• Short proximal phalanx of hallux
• Aplasia/Hypoplasia of the middle phalanges of the toes
• Radial deviation of the 3rd finger
• Short distal phalanx of finger

Also known as: BDA1; Farabee type brachydactyly