Monday, March 27, 2023
HomePediatrics: Genetics and Metabolic DiseaseGenetics of Rubinstein-Taybi Syndrome

Genetics of Rubinstein-Taybi Syndrome

Practice Essentials

Consistent features of Rubinstein-Taybi syndrome (RSTS) include intellectual disability, broad great toes, broad thumbs, and maxillary abnormality. Other features include characteristic facies, ie, high, arched eyebrows; beaked nose with short columella; abnormal palpebral fissure slant for race; and micrognathia. The syndrome was first described by Rubenstein and Taybi, in 1963.

Most cases arise from sporadic, fresh mutations (1% recurrence risk) in the cAMP response element-binding protein (CREB)–binding protein (CBP) gene or from EP300 mutations.

Patients with RSTS are susceptible to frequent infections (pulmonary and otitis media), have a high anesthesia risk, demonstrate an ineffective response to vaccines (polysaccharide), and have dental abnormalities.

Primary care involves management of the following:


Dental abnormalities (crowding, abscesses)



Obstructive sleep apnea

Intellectual disability

Screening echocardiogram should be performed if murmur or cyanosis is present. Tumor surveillance (central nervous system neoplasms and rhabdomyosarcoma) is important as well. 

Medications to avoid in RSTS include the following:

Muscle relaxants 


Strong warning about out-of-hospital anesthesia

- Advertisment -

Most Popular