Weaver Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare syndrome caused by mutations in the EZH2 gene, and rarely mutations in the NSD1 gene. It is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability.

**Synonyms:** - WVS - Weaver-Smith Syndrome