Families

Prevalence
The Rubinstein-Taybi syndrome (RTS) is a rare congenital developmental disorder. It occurs at between 1/100 000 and 1/125 000 births.

Clinical characteristics
Individuals with RTS have typical facial dysmorphism, distal limb abnormalities, intellectual disability and many additional features.

Molecular characteristics
Two genes are currently known to cause RTS: CREBBP or EP300is mutated in around 55% and 8% of clinically diagnosed cases.

Genetic Counselling
RTS is inherited as an autosomal dominant trait. The occurrence is sporadic in the large majority of cases (around 99%).

Management
Treatment is symptomatic and multidisciplinary.