Individuals with Weaver Syndrome are characterized by pre- and postnatal overgrowth with marked macrocephaly, advanced bone age, developmental delay and characteristic facial features. The Weaver syndrome phenotype overlaps with Sotos syndrome and the two syndromes may be difficult to differentiate from one another. Clinical features shared by both syndromes include developmental delay, and overgrowth with prominent macrocephaly. Distinguishing features of Weaver syndrome include facial features such as broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia and deep horizontal chin groove. Mutations of the EZH2 gene have been identified in patients with Weaver syndrome.
To date, no deletions/duplications in the EZH2 gene as causative of Weaver syndrome have been reported. Deletion/duplication analysis of EZH2 is performed by oligonucleotide array-CGH.