Syndactyly type IV/hexadactyly of feet associated with unilateral absence of the tibia

Abstract

We report on a newborn girl with syndactyly type IV, hexadactyly of feet, and right tibial hemimelia. She has 5 other relatives with identical anomalies of the hands and feet transmitted as an autosomal dominant trait. Syndactyly type IV is rare as is absence of the tibia. We suggest the possibility that syndactyly type IV may be a more complex entity, including lower limb malformations, and transmitted as autosomal dominant with variable expressivity.