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Ellis Van Creveld syndrome

Disease definition

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ORPHA:289

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

Detailed information

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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.