Rubinstein-Taybi syndrome is an autosomal dominant congenital malformation syndrome characterized by intellectual disability, growth retardation, and a wide range of dysmorphic features. Facial dysmorphology includes downward slanting palpebral fissures, a broad nasal bridge, a beaked nose, and micrognathia. Particularly noticeable are the broad thumbs and broad big toes. Other clinical problems include electroencephalogram abnormalities, cardiac anomalies, and occasional skeletal and eye abnormalities. In addition, patients with Rubinstein-Taybi syndrome have an increased risk for tumor formation. Although various types of tumors have been described, there is an excess of tumors in brain or neural-crest cell-derived tissue.

The gene encoding the CREB-binding protein (CBP) was reported as the causative gene of Rubinstein-Taybi syndrome. The protein, CBP, serves as a transcriptional coactivator. It has a transactivation domain but does not specifically bind to DNA. The name of the protein is based on the interaction with the CRE-binding protein (CREB); however, CBP interacts with a large number of other proteins as well. CBP may have a role as an integrator of the signals from various pathways.