Genetics of Rubinstein-Taybi Syndrome Follow-up

Updated: Feb 10, 2023
  • Author: Keith K Vaux, MD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Further Outpatient Care

Outpatient care includes the following [17] :

  • Growth measurement and plotting of parameters on published syndrome-specific growth charts [6]
  • Ophthalmologic examination
  • Hearing evaluation in newborn period and auditory brain stem evoked-response testing 
  • Dental evaluations
  • Echocardiogram or assessment by cardiologist for structural heart defects
  • Monitoring for constipation
  • Monitoring for cryptorchidism in males
  • Specialty orthopedic assessment of thumbs and toes
  • Scoliosis evaluation
  • Monitoring for obstructive sleep apnea
  • Tethered cord evaluation - Neonatal ultrasonography of the spinal canal in all patients; MRI in symptomatic older patients


These include the following:

  • Anesthesia respiratory compromise
  • Intellectual disabilities
  • Fine motor challenges from deviated thumbs
  • Difficulty wearing shoes
  • Tumor risk
  • Infections
  • Cardiac arrhythmia - Possible with use of succinylcholine.

A study from the Netherlands, by Boot et al, of 87 individuals with RSTS found the incidence of benign meningiomas and pilomatricomas in this cohort to be significantly greater than in the overall Dutch population. However, the report did not find evidence for a greater incidence of malignant tumors in RSTS, although the investigators cautioned that because the cohort was small, the study could not completely rule out the possibility of a greater tendency for malignancies to develop in this syndrome. [18]



Feeding difficulties are common in infancy and, together with the genetically based growth retardation characteristic of this syndrome, often result in a clinical picture of failure to thrive.

Respiratory infections and complications from congenital heart disease are major causes of morbidity and mortality in the first years of life.

Developmentally, milestones in these patients are delayed to such an extent that patients typically sit up at age 11 months and walk at age 30 months. First words typically are spoken at age 25 months, and affected individuals are toilet trained at about age 62 months. Approximately two thirds of patients older than 6 years can read, but they usually do not progress beyond a first-grade level. However, survival rates, in general, are good, with frequent reports of adults with RSTS.