Rubinstein-Taybi syndrome

Genetics

• autosomal dominant
• associated with mutation in gene for CREB binding protein (CREBBP)
• associated with defects in EP300

Clinical manifestations

• mental retardation
• broad thumb & great toe
• antimongoloid slant to eyes
• thin & beaked nose
• prominent forehead
• low-set ears
• high arched palate with hypoplastic maxilla
• cardiac anomalies: patent ductus arteriosus (others)

Complications

• propensity for development of malignancies

More general terms

• developmental disorder
• genetic syndrome (multisystem disorder)

Additional terms

• CREB-binding protein; CBP transcriptional coactivator (CREBBP, CBP)

Database

• OMIM: https://mirror.omim.org/entry/180849
• OMIM: https://mirror.omim.org/entry/600140