brachydactyly type A1B

A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.

Signs and symptoms

• Type A brachydactyly
• Short stature
• Cone-shaped epiphyses of the phalanges of the hand
• Broad distal hallux
• Short distal phalanx of finger
• Short middle phalanx of finger
• Radial deviation of finger
• Short 5th metacarpal
• Clinodactyly

Also known as: BDA1B