Tatton Brown Rahman Syndrome
Jill Kiernan explains Tatton Brown Rahman Syndrome (TBRS). Jill is the executive director of the TBRS Community, a patient advocacy group committed to bringing together families, clinicians, and researchers interested in this rare disease.
TBRS is a rare genetic disorder due to mutations in the DNMT3A gene. The disease is named after Drs Katrina Tatton-Brown and Nazneen Rahman but is also called DNMT3A Overgrowth Syndrome. Individuals with TBRS are typically tall, overweight, and with distinctive facial characteristics. Mild to severe intellectual disability is also a common symptom.
TBRS is an ultra-rare condition. As of 2021, approximately 250 people have been diagnosed with this condition. There is currently no targeted therapy for TBRS, and clinical care is focused on managing the particular clinical findings in each individual.
To learn more about TBRS, visit tbrsyndrome.org/
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