Weaver Syndrome (WVS)

Weaver Syndrome (WVS)

OMIM number: 277590

Comments closing date: 10/10/2024

Weaver syndrome is a rare congenital disorder characterized by generalized overgrowth, macrocephaly, specific facial features, accelerated bone age, camptodactyly (one or more permanently bent digits), intellectual disability, and possibly increased susceptibility to cancers. It is inherited in families in an autosomal dominant pattern; with a 50% chance each child of an affected individual inheriting the EZH2 mutation causing the condition. Children born with Weaver Syndrome are likely to encounter a number of additional symptoms. These include a curving of the upper back, weak muscle tone and loose, flexible joints. Children with Weaver Syndrome are also likely to have learning difficulties ranging from mild-severe and there is a high occurrence of difficulties with communication and social skills.

Treatment for the condition of management only. For individuals with developmental delay and/or learning disability, referral for learning/behaviour/speech assessment and support may be indicated. Occasionally, toe camptodactyly may require surgical release. Physiotherapy may benefit those experiencing joint pain. Standard treatment with appropriate specialist referral(s) is indicated for epilepsy, scoliosis, and other clinical issues. No specific tumour surveillance is currently recommended but clinical vigilance and early investigation for possible tumour (particularly neuroblastoma)- related symptoms are recommended.

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