Published: 2022-08-24

Ellis-Van Creveld syndrome: a case report

Nisarga B. Kunte, Rakesh Amruth Navale


Ellis-Van Creveled (EVC) syndrome, also called chondroectodermal dysplasia, is a rare genetic disorder with autosomal recessive type of inheritance with 25% risk of transmission to subsequent pregnancies. The syndrome is due to mutation of EVC1 and EVC2 genes on chromosome 4p16, characterized by acromesomalic dwarfism, bilateral postaxial polydactyly, ectodermal dysplasia affecting nails, teeth and congenital heart malformation. One third of the patients die at an early age or during infancy from cardio respiratory problems. The birth prevalence of EVC syndrome is 1/5000 live births in Amish population and 7/1,000,000 live birth in non-Amish population. There are a very few case reports in the literature. We reported a case of 14-year male presenting with typical features of this syndrome.    

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Talib AN, Alshahrani I, Simasetha S. Ellis-van Creveld syndrome: a rare clinical report of oral rehabilitation by interdisciplinary approach, Case Rep Dent. 2018;23:1-5.

Polymeropoulos MH, Ide SE, Wright M. The gene for Ellis van Creveld syndrome is located on chromosome 4p16. Genomics. 1996;35(1):1-5.

Galdzicka N, Patnala S, Hirshmanetal MG. A new gene, EVC2, is mutated in Ellis van Creveld syndrome. Molec Genet Metab. 2002;77(4):291-5.

Shetty P, Shetty D, Priyadarshana PS, Bhat S. A rare case report of Ellis Van Creveld syndrome

in an Indian patient and literature review. J Oral Biol Craniofac Res. 2015;5:98-101.

Hegde K, Puthran RM, Nair G, Nair PP. Ellis-Van Creveld syndromeea report of two siblings. Br Med J Case Reports. 2011:1-8.

Cahuana A, Palma C, Gonzales W, Gean E. Oral manifestations in Ellis-van creveld syndrome. Rep Five Cases Pediatr Dent. 2004;26:277-82.

Baujat G, Merrer ML. Ellis-van Creveld syndrome. Orphanet J Rare Dis. 2007;2(1):27.

Gopal G, Belavadi GB. Case report of a child with Ellis-Van creveld syndrome. Int J Pharm Biomed Res. 2014;5:14-s7.

Alves-Pereira D, Berini-Aytes L, Gay-Escoda C. Ellis-Van Creveld syndrome. Med Oral Patol Oral Cir Bucal. 2009;14:E340-3.