ASHITH CHANDRA DAS1, MD TAREK AZAD2, JANNATUL FERDUSH CHOWDHURY3
Introduction
Ellis-van Creveld (EVC) syndrome is a complex genetic disorder having autosomal recessive inheritance which is also called chondroectodermal dysplasia, mesoectodermal dysplasia or chondrodystrophy syndrome.1 It is a syndrome
affecting the Amish population of Pennsylvania in USA with the prevalence rate of 1/5,000 live birth. In non- Amish population, the birth prevalence is 7/1,000,000.2
It was first described in 1940 by Richard W. B. Ellis and Simon van Creveld and they termed it chondroectodermal dysplasia.3 Etiology of this syndrome is still speculative. However recent identification of EVC gene has led to a better understanding of this syndrome. The EVC gene has been mapped to chromosome band 4p16 using linkage
analysis. Mutations in a second gene, called EVC2 also give rise to the same phenotype of the syndrome.4 The tetrad of chondrodystrophy, post axial polydactyly,
ectodermal dysplasia and congenital heart disease characterize this syndrome and affects both males and females equally.5,6