Weaver syndrome is an extremely rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities, is similar to Sotos syndrome, and is classified as an overgrowth syndrome. Its genetic cause was identified in 2011 as mutations in the EZH2 gene. Forty-eight cases had been documented and confirmed as of December 2013, with prevalence estimated at around 1 in 15,000, similar to Sotos syndrome. It was first described by American physician David Weaver in 1974.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Sources
1. Weaver syndrome (Wikipedia)
Wikipedia intro: Weaver syndrome: 'autosomal dominant...advanced osseous maturation'; first described by David Weaver in 1974View the Source 2. Wikidata: Weaver syndrome
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