Tatton-Brown Rahman Syndrome & Weaver Syndrome
What are Tatton-Brown Rahman Syndrome and Weaver Syndrome?
These two syndromes are included on the same page as currently there is little know about both and their causes and symptoms are similar but they are different syndromes.
Tatton-Brown Rahman Syndrome (TBRS), also known as DNMT3A overgrowth syndrome, is a syndrome that produces faster than normal growth both before and after birth, resulting in a severely increased height throughout the child’s life. TBRS is very recently confirmed and it is still unknown exactly how many people it affects.
Weaver Syndrome is an overgrowth syndrome similar to TBRS. A lot of the characteristics and symptoms are similar and it is unknown how many children are affected.
Why does it occur?
TBRS is caused by a mutation in the DNMT3A gene, this gene provides instructions for making an enzyme that regulates gene activity and controls the chemicals that send messages in our nervous system. DNMT3A is particularly important in the development of the body prior to birth.
A main difference between Weaver Syndrome and TBRS is in the cause of the syndrome. 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 are TBRS and Weaver Syndrome diagnosed?
A genetic test to check the mutation in the DNMT3A gene can confirm a clinical diagnosis in most cases.
Signs & Symptoms
Children born with TBRS 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 TBRS 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.
The symptoms of Weaver Syndrome are similar to those of TBRS but 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.
We hope to add personal experiences and stories from people affected by TBRS and Weaver Syndrome soon.
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