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 and 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 and 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 contacting our nurse led Support Line for support and advice.
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 to find the Overgrowth conditions Facebook group.
Personal stories
Read about the personal experiences and stories from people affected by Weaver Syndrome.
News and blogs about Weaver Syndrome
Q&A with Rumeysa Gelgi
Video Q&A with Rumeysa Gelgi, Weaver syndrome advocate and multiple Guinness World Record holder. In support of our convention, Rumeysa Gelgi joined a video Q&A with our Chair of Trustees Jeff Bolton. The session was really well received at convention and...
Further reading and downloads
Need to talk to someone?
Do you require information or someone to talk to? Do you wish to volunteer, donate, or attend one of our events? Then please, feel free to get in touch! We are happy to help.
