Weaver syndrome

Medical Definition of Weaver syndrome

Weaver syndrome: An overgrowth syndrome characterized by accelerated growth and advanced bone age (evident at birth), unusual craniofacial appearance, hoarse low-pitched cry, and hypertonia (increased muscle tone) with camptodactyly (inability to fully extend the fingers). Caused by mutations in a gene called NSD1. The same gene is mutated in more than three-fourths of patients with another overgrowth disorder called Sotos syndrome.


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Reviewed on 12/22/2016

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