Ellis Van Creveld Syndrome

Abstract

Introduction: Chondroectodermal dysplasia is a complex genetic syndrome first described in 1940 by Ellis and Van Creveld (1940) which is also called mesoectodermal dysplasia, Ellis-Van creveld syndrome or chondrodystrophy syndrome.  It is a rare autosomal recessive disorder whose minimal diagnostic criteria include postaxial polydactyly of the hands, short limb dwarfism and dysplastic finger nails and teeth.  We describe a case with shortening of limbs and polydactyly.