Rubinstein–Taybi syndrome (RTS), is a condition 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 and/or EP300 gene located on chromosome 16.
People with this condition have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition ...