eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Rubinstein-Taybi Syndrome: Follow-up

Author: David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
Contributor Information and Disclosures

Updated: Nov 24, 2009

Follow-up

Further Outpatient Care

  • Typically, physical therapy, speech and feeding therapy, and special education are important adjuncts in infancy and early childhood in patients with Rubinstein-Taybi syndrome (RSTS).7

Complications

  • Cardiac arrhythmia is possible with use of succinylcholine.

Prognosis

  • 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 approximately 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.
  • Survival rates, in general, are good, with frequent reports of adults with Rubinstein-Taybi syndrome.

Miscellaneous

Medicolegal Pitfalls

  • Cardiac arrhythmia with use of succinylcholine
  • Laryngeal wall collapsibility
  • Sleep and anesthesia problems
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Sulagna C Saitta, MD, PhD, to the original writing and development of this article.



More on Rubinstein-Taybi Syndrome

Overview: Rubinstein-Taybi Syndrome
Differential Diagnoses & Workup: Rubinstein-Taybi Syndrome
Treatment & Medication: Rubinstein-Taybi Syndrome
Follow-up: Rubinstein-Taybi Syndrome
Multimedia: Rubinstein-Taybi Syndrome
References
Further Reading
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References

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  2. Foley P, Bunyan D, Stratton J, Dillon M, Lynch SA. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. Am J Med Genet A. May 2009;149A(5):997-1000. [Medline].

  3. [Guideline] Wiley S, Swayne S, Rubinstein JH, et al. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. Jun 1 2003;119(2):101-10. [Medline].

  4. Hosek J, Borkova A. [The Rubinstein-Taybi syndrome or a broad thumb-hallux syndrome]. Cas Lek Cesk. 2008;147(3):136-40. [Medline].

  5. Balci S, Ergun MA, Yuksel-Konuk EB, Bartsch O. Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report. Turk J Pediatr. May-Jun 2008;50(3):265-8. [Medline].

  6. Marangi G, Leuzzi V, Orteschi D, et al. Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype. Am J Med Genet A. Sep 15 2008;146A(18):2313-7. [Medline].

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  9. Bartsch O, Schmidt S, Richter M, et al. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005;117(5):485-493. [Medline].

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  16. Jones KL, Jones MC. A Clinical Approach to the Dysmorphic Child in Emery and Rimoin's Principles and Practices of Medical Genetics. 3rd ed. New York, NY: Churchill; 1996.

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  18. Oike Y, Hata A, Mamiya T, et al. Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. Hum Mol Genet. Mar 1999;8(3):387-96. [Medline]. [Full Text].

  19. Petrij F, Dauwerse HG, Blough RI, et al. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet. Mar 2000;37(3):168-76. [Medline].

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  23. Rubinstein-Taybi Syndrome. OMIM. Available at http://www.ncbi.nlm.nih.gov.

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Further Reading

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Keywords

Rubinstein-Taybi syndrome, RSTS, Rubinstein syndrome, mental retardation, growth retardation, feeding difficulties, failure to thrive, respiratory infections, cryptorchidism, treatment, diagnosis, symptoms

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Contributor Information and Disclosures

Author

David Flannery, MD, FAAP, FACMG, Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia
David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics
Disclosure: Nothing to disclose.

Medical Editor

Elaine H Zackai, MD, Professor of Pediatrics, Professor of Obstetrics and Gynecology, Professor of Pediatrics in Human Genetics, University of Pennsylvania School of Medicine; Director, Clinical Genetics Center, University of Pennsylvania; Senior Physician and Director of Clinical Genetics, The Children's Hospital of Philadelphia
Elaine H Zackai, MD is a member of the following medical societies: American Cleft Palate/Craniofacial Association, American College of Medical Genetics, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert Anthony Saul, MD, Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center
Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives
Disclosure: Nothing to disclose.

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

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