General information

Weaver syndrome is characterised by the clinical triad of increased growth (height and / or head circumference), a variable learning disability and a distinctive facial appearance.

The condition is caused by an alteration (we call this a mutation) within a gene called EZH2.

Weaver syndrome is an autosomal dominant condition which means that affected individuals have a 50% chance of passing on the EZH2 gene mutation, and therefore Weaver syndrome, to their children.

However, the severity of presentation is not always the same in each generation and individuals within the same family can be both mildly or severely affected.

Weaver syndrome is rare. There is currently no data on prevalence.