General Information

Weaver syndrome is a rare, autosomal dominant disorder caused by mutations within the EZH2 gene.

Main clinical features

 The condition is characterised by tall stature (sometimes in association with macrocephaly), a learning disability (most commonly a mild learning disability) and a distinctive facial appearance.

Diagnosis/testing

Mutations EZH2 can be identified using gene sequencing (Sanger or next generation sequencing approaches).

 Management

Management of Weaver syndrome aims to identify and treat the known clinical associations. Review is recommended on an annual basis. Tumour surveillance is not currently recommended but a low threshold for investigation of any tumour-related symptoms is advised (particularly neuroblastoma that may be associated with Weaver syndrome).

Genetic counseling

EZH2 mutations are inherited in an autosomal dominant manner and therefore affected individuals have a 50% chance of passing the EZH2 mutation to their offspring. Although germline mosaicism is a theoretical possibility, there have been no reported cases to date.