Weaver Syndrome

Weaver Syndrome

What is Weaver Syndrome?

Weaver Syndrome is an overgrowth syndrome similar to Tatton-Brown Rahman Syndrome. A lot of the characteristics and symptoms are similar and it is unknown how many children are affected.

Why does it occur?

Weaver Syndrome is caused by a mutation in the EZH2 gene, this gene proves instructions for making an enzyme that modifies the proteins that structurally help the shape of the chromosomes. As yet, it is still unclear how this results in the effects of Weaver Syndrome and further research is needed.

How is Weaver Syndrome diagnosed?

A genetic test can be used to confirm a clinical diagnosis in most cases.

Signs & Symptoms

Children born with Weaver Syndrome are likely to encounter a number of additional symptoms, aside from the overgrowth. These include a curving of the upper back, heart defects, flat feet, weak muscle tone and very loose, flexible joints. Children with Weaver Syndrome are also likely to have learning difficulties ranging from mild to severe and there is a high occurrence of difficulties with communication and social skills, similar to those of autism spectrum disorders.

Early evidence may suggest a link with Weaver Syndrome and the development of a neuroblastoma tumour in early child. This can increase the risk of developing cancer.

Treatment & Support

As the condition is extremely new, medical understanding is limited, but growing all the time, treatment would focus on symptom management.

There is still very limited understanding of Weaver Syndrome, it’s symptoms and management but understanding is increasing all the time.

Please consider calling our helpline for support and advice, we can also help put you in touch with other families with the same condition. We also have members of our Facebook Group who may be able to help you.

Facebook Support Group

The CGF run a number of closed Facebook groups, providing peer support for people directly affected by growth conditions, their parents, family and friends. These groups are a fantastic support tool. Click the image below to find the Overgrowth conditions Facebook group.

0208 995 0257

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Personal Stories

We hope to add personal experiences and stories from people affected by Weaver Syndrome soon.

Further Reading/Downloads

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