Chondroectodermal dysplasia

Chondroectodermal dysplasia, also known as the Ellis-van Creveld syndrome, is a rare type of skeletal dysplasia. It is classified as a type of mesomelic limb shortening 5.

Clinical features include:

It is caused by defects in one of two Ellis van Creveld syndrome genes (EVC1 and EVC2) that are next to each other on chromosome 4p16 3. It is thought to carry an autosomal recessive inheritance with variable expression 4.

It is named after Richard W B Ellis of Edinburgh and Simon van Creveld of Amsterdam who first described the syndrome in 1940 2.

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Article information

rID: 15022
Synonyms or Alternate Spellings:
  • Ellis-van Creveld syndrome
  • Ellis-van Creveld syndrome (EVC)
  • Chondral and ectodermal dysplasia
  • Chondro-ectodermal dysplasia
  • Mesoectodermal dysplasia

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