Gordon syndrome


Gordon syndrome, or distal arthrogryposis type 3, is a rare genetic disorder characterized by cleft palate and congenital contractures of the hands and feet.

Signs and symptoms

Other signs and symptoms include short stature, bifid uvula, hip dislocation, scoliosis or kyphosis, or syndactyly. Intelligence is not affected.

Cause

Gordon syndrome is a rare autosomal dominant disorder caused by mutation in PIEZO2.

Epidemiology

It affects males and females equally. Fewer than 50 cases have been reported worldwide.