Rubinstein-Taybi syndrome (RTS) is a syndrome characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. 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. While RTS can be inherited in an autosomal dominant manner, most cases result from a new (de novo) mutation in the responsible gene and are not inherited from a parent. Treatment is symptomatic and supportive.

CREBBP or EP300 gene, or as the result of a very small deletion (microdeletion) of genetic material from the short (p) arm of chromosome 16. In some people with RTS, the cause is unknown. Researchers believe that these cases are due to mutations in other genes that have not yet been identified.

The long-term outlook (prognosis) for people with RTS is generally good, but it may vary due to the range and severity of the health problems that may be present. Most patients have developmental delay and intellectual disability but most of patients older than 6 years of age are able to learn to read. Life expectancy generally does not seem to be affected, except in children with complex cardiac (heart) defects. Cancers and respiratory infections are the most common causes of death. Survival rates in general are good and there are many reports of adults with RTS.