European Journal of Molecular & Clinical Medicine

Abstract

Ellis Van Creveld syndrome (EVC) is a rare genetic disorder with autosomal recessive inheritance, seen more amongst the Amish population of Pennsylvania in USA with an incidence of 1:2,44,000.” Six fingered dwarfisms” was another name given to this syndrome. This syndrome presents with four clinical characteristic features of ectodermal dysplasia, congenital heart disease, bilateral postaxial polydactyly and nail or teeth hypoplasia. A typical case of a 13-month-old child is present in this article