Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations in EVC and EVC2 genes. Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having ...

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia, a rare autosomal recessive disorder, is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease, of which chondrodystrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are some of its rarer associations. This report describes E...