The inaugural World RTS – Rubinstein Taybi Syndrome – Awareness Day was held on July 3 to raise awareness of the condition.

RTS is a rare chromosomal syndrome affecting around 1 in every 100,000 children born, and can cause problems including heart abnormalities, feeding problems, eye defects, lax muscle tone, tethered spinal cords, and mild to severe learning disabilities. Many children with RTS are non-verbal in communication, relying on Makaton sign language or augmentative and alternative communication speech devices.

The syndrome is named after US doctors Jack Rubinstein and Hooshang Taybi, who first identified it 1963, after examining 7 children with an intellectual disability, short stature, broad thumbs and broad big toes. Following diagnosis, the syndrome was initially named broad thumb-hallux syndrome but later researchers re-named it after the two founding doctors. An abnormality of chromosomes 16 or 22, meaning they are damaged, missing or untraceable, is thought to be the cause of this collection of features, but other than that, little is known about the syndrome.To try and understand more about the condition, research is being conducted in France, the Netherlands and in the UK, some being headed by Dr Raoul Hennekam, professor of paediatrics and translational genetics at the University of Amsterdam, as well as behavioural studies by Dr Chris Oliver from the University of Birmingham.

John Peat, chairman of support group RTS UK, said: “Raising awareness of this little known syndrome is really important. Thirty years ago when my son was diagnosed with RTS, there was hardly any information at all – which is why it is so important to educate medical professionals and families. The more people know about rare syndromes like RTS, the greater chance we have of improving the lives of children with RTS now and in the future.”