Wildervanck syndrome

Wildervanck syndrome, also known as cervico-ocular-acoustic dysplasia, consists of the triad of:


Wildervanck syndrome is inherited in an autosomal dominant fashion with incomplete penetrance and occurs ten times more commonly in girls than boys .


A large number of associations have been described, although it is contentious how many are actually causally linked:

  • short stature
  • brainstem hypoplasia
  • deformed external ears
  • inner ear anomalies
  • facial asymmetry
  • learning difficulties
  • cleft palate
  • cardiac anomalies
  • Dandy Walker syndrome

History and etymology

This condition is named after L S Wildervanck, Dutch human geneticist, who first described the condition in 1952 .

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