Long-Thumb Brachydactyly Syndrome

Clinical Features

Hollister and Hollister (1981) described a family in which members of 3 generations had a syndrome characterized by brachydactyly, clinodactyly, small hands and feet, narrow shoulders with short clavicles, pectus excavatum, apparent cardiomegaly, murmur of pulmonic stenosis, possible cardiac conduction defects, restriction of motion at the shoulder and metacarpophalangeal joints, and mild shortness of the limbs. Male-to-male transmission occurred in 1 instance. A unique feature was symmetric brachydactyly with relatively long thumbs. The tip of the thumb extended distal to the proximal interphalangeal joint of the index finger when these digits were apposed.

Inheritance

Male-to-male transmission of the long-thumb brachydactyly syndrome in the family reported by Hollister and Hollister (1981) was consistent with autosomal dominant inheritance.