Ellis-van Creveld Syndrome with Developmental Delay

Ellis-van Creveld (EVC) syndrome also known as chondro-ectodermal dysplasia or meso-ectodermal dysplasia, is a rare autosomal recessive syndrome. EVC belongs to the short rib-polydactyly group. The genetic defect is located at chromosome 4p16. Two different mutations EVC1 and EVC2 have been identified. All embryonic layers appear to be involved in EVC syndrome. This syndrome is characterized by skeletal and ectodermal dysplasia. The principal features of this syndrome are chondroectodermal dysplasia, polydactyly and congenital heart defects. We report a 10-month-old female child with EVC syndrome with all the classical features and developmental delay, which has not yet been reported with this syndrome.