Mutations in the EVC2 gene are known to be the cause of autosomal recessive Ellis-van Creveld syndrome (EVC, OMIM 225500) and autosomal dominant Weyers acrodental dysostosis (MIM 193530), rare malformation syndromes with a number of common phenotypic features, which include limb malformations (e.g., syndactyly, polydactyly) (Mankin, Jupiter & Trahan, 2011; Shen et al., 2011). The gene discussed is EVC2; the disease is Ellis-van Creveld syndrome.