Genetics of Rubinstein-Taybi Syndrome Workup

  • Author: David Flannery, MD, FAAP, FACMG; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Mar 9, 2012
 

Imaging Studies

  • Determine imaging studies in patients with Rubinstein-Taybi syndrome (RSTS) using a system-by-system approach based on clinical findings of the individual patient. For example, a patient with a congenital heart defect requires an involved cardiac investigation such as ECG and echocardiogram, whereas a patient with a seizure disorder requires EEG and brain imaging.
  • Renal ultrasonography may be appropriate, but few reports of anomalies are noted.
Next

Other Tests

  • Chromosomal karyotype analysis
  • Fluorescence in situ hybridization (FISH) for chromosome band 16p13[5]
  • Mutation analysis of the CBP gene
  • ECG for cardiac investigation for congenital heart disease
  • Neurologic evaluation
Previous
Proceed to Treatment & Management
 
 
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.

Specialty Editor Board

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.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Robert Anthony Saul, MD  Clinical Professor, Department of Pediatrics, University of South Carolina School of Medicine; 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.

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 and Genetics, Director RSA, 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.

Additional Contributors

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.

References

  1. Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. Am J Dis Child. 1963;105:588-608.

  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].

  7. Galera C, Taupiac E, Fraisse S, et al. Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome. J Autism Dev Disord. Apr 7 2009;[Medline].

  8. Altintas F, Cakmakkaya S. Anesthetic Management of a child with Rubenstein-Taybi syndrome. Paediatr Anaesth. 2004;14(7):610-611. [Medline].

  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].

  10. Cantani A, Gagliesi D. Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits. Eur Rev Med Pharmacol Sci. Mar-Apr 1998;2(2):81-7. [Medline].

  11. Coupry I, Monnet L, Attia AA, et al. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. Hum Mutat. 2004;23(3):278-284. [Medline].

  12. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. Sep 2004;114(3):889-94. [Medline].

  13. Hennekam RC, Lommen EJ, Strengers JL, et al. Rubinstein-Taybi syndrome in a mother and son. Eur J Pediatr. Feb 1989;148(5):439-41. [Medline].

  14. Hennekam RC, Stevens CA, Van de Kamp JJ. Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Suppl. 1990;6:56-64. [Medline].

  15. Jones KL. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: WB Saunders; 1996.

  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.

  17. Marion RW, Garcia DM, Karasik JB. Apparent dominant transmission of the Rubinstein-Taybi syndrome. Am J Med Genet. May 15 1993;46(3):284-7. [Medline].

  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].

  20. Petrij F, Giles RH, Dauwerse HG, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co- activator CBP. Nature. Jul 27 1995;376(6538):348-51. [Medline].

  21. Roelfsema JH, White SJ, Ariyurek Y, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005;76(4):572-580. [Medline]. [Full Text].

  22. Rubinstein JH. The broad thumb syndrome - progress report 1968. Birth Defects Orig Art Ser. 1969;V(2):25-41.

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

  24. Stevens CA, Bhakta MG. Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet. Nov 20 1995;59(3):346-8. [Medline].

  25. Stirt JA. Succinylcholine in Rubinstein-Taybi syndrome. Anesth. 1982;57(5):429. [Medline].

  26. Wood MA, Kaplan MP, Park A, et al. Transgenic mice expressing a truncated form of CREB-binding protein (CBP) exhibit deficits in hippocampal synaptic plasticity and memory storage. Learn Mem. 2005;12(2):111-119. [Medline]. [Full Text].

  27. Yamamoto T, Kurosawa K, Masuno M, et al. Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. Am J Med Genet. 2005;135(2):130-133. [Medline].

 
Previous
Next
 
Facial abnormalities (eg, hypoplastic maxilla, prominent beaked nose, antimongoloid palpebral fissures) and broad thumbs in a child with Rubinstein-Taybi syndrome (RSTS).
Prominent beaked nose, low-set ears, and broad thumbs in a child with Rubinstein-Taybi syndrome (RSTS).
Broad great toes in a child with Rubinstein-Taybi syndrome (RSTS).
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.