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 .

Clinical spectrum

Clinical features include:

  • narrowing of thorax with short ribs
  • small and flared ilia
  • triradiate acetabula
  • cleft lip and / or palate
  • epispadias 
  • cryptorchidism
  • polydactyly: tends to be post axial
  • limb anomalies
    • short limbs: especially forearm and lower leg
    • bowing of humerus and femur
    • hypoplasia of proximal tibial ossification center
    • genu valgum
    • short fibula
    • carpal fusion
    • short and broad middle phalanges
    • hypoplastic distal phalanges
  • short stature
  • sparse, absent, or fine textured hair
  • dental anomalies
    • peg teeth
    • widely spaced teeth
    • natal teeth
    • delayed teeth
    • missing teeth



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 . It is thought to carry an autosomal recessive inheritance with variable expression .


History and etymology

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

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