Brachydactyly types B and E combined

Synonyms

3

Overview

Brachydactyly types B and E combined is a rare hand anomaly characterized by shortening of one or more metacarpals (hand bones) as well as an underdeveloped end bone in the little finger. Pitt and Williams (1985) reported this type of brachydactyly in 12 members of 4 generations of a family. The subjects were, however, not short of stature as in type E. Male-to-male transmission was noted in several instances. Pitt and Williams called this phenotype brachydactyly type Ballard after the name of the family.

Symptoms

• Underdeveloped distal phalanges on ulnar side of hand
• Short metacarpals
• Broad thumb
• Short thumb
• Concave nail

Causes

Inheritance of Brachydactyly types B and E combined appears to be autosomal dominant.