In 2014, a new syndrome called Tatton Brown Rahman Syndrome (TBRS) was discovered by The Childhood Overgrowth Study in England. It has also been referred to as DNMT3A Overgrowth Syndrome. It is named for two of the lead researchers, Dr Tatton Brown and Dr Rahman. The syndrome results from a de novo mutation of the DNMT3A gene. The parents of the diagnosed children in the study did not have the DNMT3A mutation. TBRS can only be confirmed through genetic testing.

 

The major symptoms are increased growth (height and/or head circumference), and learning disability. There are recognizable facial features (heavy horizontal eyebrows, narrow palpebral fissures, round face) that seem to become more apparent with age. Some other symptoms that have been associated with TBRS are: scoliosis, low muscle tone, hypermobility of joints, seizures (including febrile), autism, heart defects, skeletal-muscular problems of feet/hip/back, and other possible abnormalities that have yet to be clearly associated.

 

At present (December 2015) there are roughly 33 diagnosed patients worldwide, including 3 in Netherlands. Due to improved genetic testing, we expect an increase in diagnosed TBRS patients in the future.

Although there is still little known about TBRS, we hope to inform and provide resources to patients and their parents so they have the tools they need to improve their future.

Treatment for the purposes of healing is not currently available, but physiotherapy and physical/psychological/psychiatric opinions in addition to that of a doctor for people with disabilities, are very valuable for the support of the parents and family.