Rubinstein–Taybi syndrome

Common card · No. 257145

Rubinstein–Taybi syndrome (RTS) is a rare type of microdeletion syndrome characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. These characteristics are caused by a mutation or deletion in the CREBBP gene, located on chromosome 16, and/or the EP300 gene, located on chromosome 22. This condition is sometimes inherited as an autosomal dominant pattern, but often as a de novo. It affects an estimated 1 in 125,000–300,000 births.

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