EZH2

Clinical Characteristics

 

Weaver syndrome is characterised by increased growth (height and / or head circumference) in association with a learning disability and a distinctive, but subtle facial appearance.

The increased growth is of prenatal onset. The associated intellectual disability is variable but most commonly in the mild range. The characteristic facial appearance is most evident in early childhood: there is hypertelorism, frontal bossing, a pointed chin that can look “stuck on” with associated horizontal skin crease, retrognathia and fleshy ears.

Other clinical features associated with Weaver syndrome include camptodactyly, soft, doughy skin, umbilical hernia and hoarse cry in the neonatal period and, at older ages, joint laxity and kyphoscoliosis.

There is emerging evidence that there may be a slightly increased risk of developing neuroblastoma in infancy / early childhood.