Brachydactyly type B

Print

Disease Overview

Brachydactyly type B (BDB) is a condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails.[13622] Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands.[13626] There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant.[13631][13630][13622] Treatment may include surgery if the condition affects hand function, or for cosmetic reasons.[13632]



For more information, visit GARD.

National Organization for Rare Disorders