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. [1, 2]
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
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:
Strong warning about out-of-hospital anesthesia
16p13 deletion syndrome - A submicroscopic, proximal deletion on chromosome 16p13.3, which includes the CREB-binding protein ( CBP) gene, DNASE1, and TRAP1
Rubenstein-Taybi syndrome 1 (RSTS-1) - A point mutation or deletion in CBP (OMIM 180849); 50% of cases 
Rubenstein-Taybi syndrome 2 (RSTS-2) - A point mutation or deletion in EP300 (OMIM 602700); 3% of cases 
Mutation of the CBP gene has been detected in approximately 50% of affected individuals with RTST. Mutations in EP300 on 22q13.2 account for a small number of cases. Epigenetic alterations have been suggested as a possible cause for the remaining cases, as approximately 50% of individuals with clinical features consistent with RTST do not have a detectable deletion or mutation in CBP or EP300.
Beets et al stated that the birth prevalence of RSTS is 1 in 100,000-125,000. 
Respiratory infections and complications from congenital heart disease are major causes of morbidity and mortality in the first years of life. Instability of the craniovertebral junction at C1-C2, hypoplasia of the dens, and fusion of the cervical vertebrae have been described as potentially life-threatening abnormalities. Issues with perioperative management, including collapsible airway and susceptibility to succinylcholine, have also been described. Wiley et al have provided guidelines for the clinical management and surveillance of patients with RSTS. 
No known race predilection has been noted.
Males and females appear to be equally affected.
RSTS is often identified in the newborn period when the characteristic physical features are noted (eg, prominent nose, broad thumb, broad great toe).
Patients with RSTS can have a normal lifespan. Major causes of morbidity and mortality in the first years of life include the following:
Complications from congenital heart disease
Instability of the craniovertebral junction at C1-C2
Hypoplasia of the dens
Fusion of the cervical vertebrae
Perioperative management - Collapsible airway, susceptibility to succinylcholine
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