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Ellis Van Creveld syndrome

Synonym(s) Chondroectodermal dysplasia
Mesodermic dysplasia
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q77.6
  • C0013903
  • D004613
  • 10008724


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.

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