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Ellis Van Creveld syndrome

ORPHA289
Synonym(s) Chondroectodermal dysplasia
Mesodermic dysplasia
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Neonatal
Antenatal
ICD-10
  • Q77.6
OMIM
UMLS
  • C0013903
MeSH
  • D004613
MedDRA
  • 10008724

Summary

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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