Rubinstein-Taybi Syndrome (RTS) was identified in 1963 by Jack Herbert Rubinstein and Hooshang Taybi.
RTS is an extremely rare autosomal dominant genetic disease, occurring in around one case per 125,000 live births. RTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. 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.
Find out more in our Information Booklet - read on-line or download.