Meet. Support. Advance. Raising awareness of another Rare Disease - TBRS Community

Tatton Brown Rahman Syndrome (TBRS) is a rare genetic disease caused by pathogenic variants (previously called mutations) in the DNMT3A gene and for that reason, it is also called DNMT3A Overgrowth Syndrome.

Individuals with TBRS have overgrowth—typically, tall stature, increased weight, and large head circumference (also known as macrocephaly)—mild to severe intellectual disability, and subtle but distinctive facial characteristics.

There are a variety of other symptoms that are also associated with TBRS, such as low muscle tone, behavioral and mental health issues, orthopedic problems, cardiac defects, and autism, but not all individuals have every clinical finding reported, and the syndrome varies considerably in its severity.

As of 2021, roughly 250 people have been diagnosed with TBRS. It is not clear how common the syndrome is, but many more individuals are likely to be diagnosed as whole genome sequencing methods become more accessible. There is currently no cure for TBRS, and clinical care is focused on managing the particular clinical findings in each individual.

Episode Transcript: https://docs.google.com/document/d/11ZW665x8eYUYe7Pb1BtYr1r2laITkooz/edit?usp=sharing&ouid=117716030289987185197&rtpof=true&sd=true

Connect to learn more

Website: https://tbrsyndrome.org/

Email: info@tbrsyndrome.org

Facebook: https://www.facebook.com/dnmt3aovergrowthsyndrome/

X (formerly Twitter): @TBRSCommunity

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