Educational Content: This article is for informational purposes only and does not constitute medical advice. Always consult a healthcare provider for diagnosis and treatment.
Definition of Weaver syndrome
Medically reviewed by Dr. Otari Nergadze, Neurosurgeon | Updated: January 2026
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.