Brachydactyly-long thumb syndrome

Definition

A rare heart-hand syndrome characterized by bisymmetric brachydactyly accompanied by long thumbs and cardiomegaly. Cardiac conduction defects may also be present. Additional clinical features include limited internal and external rotation of the shoulders (that are usually narrow with short clavicles) and limited flexion of the metacarpophalangeal joints. Mild shortness of the limbs, small hands and feet, clinodactyly, pectus excavatum and murmur of pulmonic stenosis have also been reported. There have been no further descriptions in the literature since 1981.