Providing information and support · raising awareness · encouraging research

Rubinstein-Taybi Syndrome (RTS) is an extremely rare genetic condition, occurring in around one case per 125,000 live births.

RTS was identified in 1963 by Jack Herbert Rubinstein and Hooshang Taybi.

The condition is often but not always characterised by typical facial features, microcephaly (small head circumference), broad thumbs and first toes, intellectual disability, and postnatal growth delay. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity.

The syndrome may be caused by a mutation in the CREBBP or EP300 gene, or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16. In some people with RTS, the cause is unknown. RTS is a lifelong condition which affects individuals in different ways and to varying degrees of severity.

The Rubinstein-Taybi Syndrome Support Group is a registered charity with a committee of elected Directors who all have a direct link with RTS.

They ensure that the charity is run legally, responsibly, safely and with the interests of people living with RTS at its heart.

Information & support

Have you recently received a diagnosis of RTS for a child or relative?

We understand this can be a challenging time. It can help to reach out to others who understand what you are going through. The RTS Support Group is here to help.

The charity connects RTS families to create a support network and provide a sense of community for people who may be facing similar challenges and can relate to each others’ situations.

You may be looking for useful and relevant information about the syndrome, and what life can be like for individuals with RTS and their families. On the Info Bank page you’ll find comprehensive information about many aspects of RTS.

Register and we’ll keep you up to date with support group activities and events.

Latest news – Co-funding new research into mental health in RTS with Aston University

We are excited to be joining forces with Aston University to produce new information and create greater understanding about RTS. Part funding of a PhD over a period of three years is a significant financial commitment for the charity – the fundraising target is £25,000 – read more.

Please support us by taking part in our current fundraiser, which is a raffle with a host of fantastic prizes.

Please note: the raffle is only open to UK residents, if you live outside the UK you can still support the PhD by making a donation.

Find out about the prizes and buy your raffle tickets at the button below.

Stories

Read about families and individuals living with RTS.