Ellis–van creveld syndrome: A rare autosomal recessive genetic disorder

Abstract

Ellis–van Creveld syndrome is a rare genetic disorder with autosomal recessive inheritance, mainly affecting the Amish population living in Pennsylvania, USA, with an incidence of 1:244,000 for the general population. This syndrome consists of characteristic features such as bilateral postaxial polydactyly, chondroectodermal dysplasia, congenital heart defects, and hypoplastic nails and teeth. There have been few case reports of this syndrome published mainly in dental literature. We report a case of a 40-year-old male presenting with typical features of this syndrome.

Keywords

• autosomal recessive
• chondroectodermal dysplasia
• hypoplastic nails
• postaxial polydactyly