Tatton-Brown Rahman Syndrome
What is Tatton-Brown Rahman Syndrome (TBRS)?
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.
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.
How is TBRS 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.
Treatment & Support
As the condition is extremely new, medical understanding is limited, but growing all the time, treatment would focus on symptom management.
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.
We hope to add personal experiences and stories from people affected by TBRS soon.
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!