Orphanet: Ellis Van Creveld syndrome

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Ellis Van Creveld syndrome

Disease definition

A rare chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects.


Classification level: Disorder
  • Synonym(s):
    • Chondroectodermal dysplasia
    • Mesodermic dysplasia
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q77.6
  • OMIM: 225500  617088  618123
  • UMLS: C0013903
  • MeSH: D004613
  • GARD: 1301
  • MedDRA: 10008724

Detailed information

Article for general public


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.