Rubinstein-Taybi Syndrome (RTS): Causes, Symptoms & Management

RTS is a rare genetic disorder from CREBBP (50–60%) or EP300 (3–8%) mutations — both encode histone acetyltransferases regulating chromatin remodeling.

Clinical Hallmarks

• Distinctive digits: Broad, radially angled thumbs and halluces (great toes).
• Facial: Arched brows, long lashes, downslanting palpebral fissures, beaked nose, high palate, grimacing smile.
• Growth: Prenatal/postnatal restriction; microcephaly.
• Neurodevelopmental: ID (moderate average); speech delay; autism/ADHD features.
• Medical: Cardiac (ASD/VSD), renal, ocular (glaucoma, cataract), dental (talon cusps), constipation, obesity risk, tumor predisposition (Wilms, neuroblastoma).

Diagnosis

• Clinical scoring + confirmatory genetic testing (CREBBP/EP300 sequencing, deletion/duplication analysis).

Management

• Multidisciplinary clinic (genetics, cardiology, nephrology, ophthalmology, orthopedics, GI, neurodev).
• Early intervention therapies.
• Surveillance: renal US, cardiac echo, ophthalmology, tumor screening.
• Behavioral support; growth monitoring; anesthesia precautions (airway).

With proactive care, individuals with RTS achieve meaningful independence and quality of life.