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Weaver syndrome

Synonym(s) Camptodactyly - overgrowth - unusual facies
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Not applicable
Age of onset Neonatal
  • Q87.3
  • C0265210
  • C536687
MedDRA -


Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance, and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

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Clinical genetics review
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