Abstract

Sarath J. S.*, Shihas S., Dr. Dhanya Dharman and Prof. Dr. Shaiju S. Dharan

ABSTRACT

Ellis Van Creveld syndrome (EVC) is a rare genetic disorder having autosomal recessive inheritance affecting, which may clinically present as small stature, short limbs, fine sparse hairs, hypoplastic fingernails, and enamels. This syndrome consists of characteristic features such as bilateral postaxial polydactyly, chondroectodermal dysplasia congenital heart defects and hypoplastic nails and teeth. We report a case of a 17year old male presenting the typical features of this syndrome.