Chondroectodermal Syndrome

J Ayub Med Coll Abbottabad. 2018 Jul-Sep;30(3):473-475.


Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B.Ellis and Simon Van Creveld in 1940. Parental consanguinity is present in about 30% of the cases. A large number of cases were reported in Amish population of Lancaster County, Pennsylvania USA and also in Aboriginal community of Australia in 1964. The incidence in Amish population is 1/5000 live births and in general population 7/1,000,000. There are only 150 cases reported worldwide. The principal feature of this syndrome is a tetrad of disproportionate dwarfism, ectodermal dysplasia, bilateral postaxial polydactyly and congenital heart defects.

Keywords: Chondroectodermal dysplasia; Ellis Van Creveld syndrome; Postaxial Polydactyly.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Consanguinity
  • Ellis-Van Creveld Syndrome / diagnosis*
  • Ellis-Van Creveld Syndrome / genetics
  • Female
  • Genu Valgum / diagnostic imaging
  • Humans
  • Male