Welcoming members with Weaver Syndrome and Tatton Brown Rahman Syndrome
Weaver syndrome and Tatton-Brown Rahman syndrome (TBRS) are congenital overgrowth syndromes which are similar to Sotos syndrome. They typically result in advanced growth during childhood, developmental delay and some degree of learning disability, but each condition has subtly different clinical features (e.g. different facial features). In addition, each syndrome is caused by abnormality of a specific gene and this means that genetic testing can be used to confirm a clinical diagnosis in most cases. Weaver syndrome is caused by abnormality of the EZH2 gene and TBRS is caused by abnormality of the DNMT3A gene.
Weaver Syndrome and TBRS are very rare and, consequently, the number of individuals affected in the UK is undoubtedly very small, with many families feeling very isolated. Since 2015, the Child Growth Foundation has been offering advice and support for families of individuals with Weaver Syndrome and Tatton Brown Rahman Syndrome (TBRS).
We already have a well-established and thriving group for families affected by Sotos Syndrome and we hope to develop similar groups for Weaver syndrome and TBRS. In both 2016 and 2017, we held a full programme for TBRS families at the annual conventions, which included talks from medical experts and informal networking sessions. We intend to continue to offer a programme for TBRS families at future conventions and are also very keen to establish a similar programme for Weaver syndrome families.
The CGF has already provided funding towards a clinical research programme to develop management guidelines and patient/family literature with Dr Kate Tatton-Brown from St George’s Hospital in London and the Institute of Cancer Research. Kate is acknowledged as being an expert in the field of overgrowth. She runs a specialist overgrowth clinic at St George’s Hospital and has been involved with the Childhood Overgrowth (COG) study since its inception. The COG study is an international study which has been running for over a decade and aims to identify novel genetic causes of childhood overgrowth and clarify associated clinical features.
We look forward to continuing to support members with TBRS & Weaver syndrome and would also be very pleased to hear from families of children and adults with other rare, overgrowth syndromes.
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