Chondroectodermal dysplasia

Last revised by Dr Daniel J Bell on 04 Aug 2022

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:

Chondroectodermal dysplasia 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 the British pediatrician Richard W B Ellis (1902-1966) 8 and the Dutch pediatric hematologist Simon van Creveld (1894-1971) 7 who first described their eponymous syndrome in 1940 2.

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Cases and figures

  • Case 1: unverified case
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  • Case 2
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