Paula and Bobby
Parents of Lillie
What is Tatton-Brown-Rahman syndrome?
This syndrome is also known as DNMT3A overgrowth syndrome. It is a recently discovered syndrome that causes overgrowth in affected individuals. There is still much that is not known about this rare condition. Intellectual disability and developmental delay are key symptoms of the syndrome.
What gene changes cause Tatton-Brown-Rahman syndrome?
Changes in the DNMTA3 gene are responsible for causing the syndrome. This gene plays an important role in regulating the growth of the body before birth.
What are the main symptoms of Tatton-Brown-Rahman syndrome?
Overgrowth is the main symptom of the syndrome. This leads to affected individuals being on a higher than average height throughout their life. This overgrowth begins before birth.
Other physical features of the syndrome include a curving of the back, flat feat, weak muscle tone and loose, hyper flexible joints.
Heart defects have also been associated with the syndrome.
Developmental delay, as well as issues with communication, behaviour and social skills (similar to those identified on the autism spectrum) are also common in affected individuals. An increased susceptibility to acute myeloid leukemia has also been documented.
How does someone get tested for Tatton-Brown-Rahman syndrome?
The initial testing for Tatton-Brown-Rahman syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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