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Genetics Home Reference: your guide to understanding genetic conditions
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Rubinstein-Taybi syndrome

Reviewed January 2007

What is Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome.

Rarely, Rubinstein-Taybi syndrome can involve serious complications such as a failure to gain weight and grow at the expected rate (failure to thrive) and life-threatening infections. Infants born with this severe form of the disorder usually survive only into early childhood.

How common is Rubinstein-Taybi syndrome?

This condition is uncommon; it occurs in an estimated 1 in 100,000 to 125,000 newborns.

What are the genetic changes related to Rubinstein-Taybi syndrome?

Mutations in the CREBBP gene are responsible for some cases of Rubinstein-Taybi syndrome. The CREBBP gene provides instructions for making a protein that helps control the activity of many other genes. This protein, called CREB binding protein, plays an important role in regulating cell growth and division and is essential for normal fetal development. If one copy of the CREBBP gene is deleted or mutated, cells make only half of the normal amount of CREB binding protein. Although a reduction in the amount of this protein disrupts normal development before and after birth, researchers have not determined how it leads to the specific signs and symptoms of Rubinstein-Taybi syndrome.

Mutations in the EP300 gene cause a small percentage of cases of Rubinstein-Taybi syndrome. Like the CREBBP gene, this gene provides instructions for making a protein that helps control the activity of other genes. It also appears to be important for development before and after birth. EP300 mutations inactivate one copy of the gene in each cell, which interferes with normal development and causes the typical features of Rubinstein-Taybi syndrome. The signs and symptoms of this disorder in people with EP300 mutations are similar to those with mutations in the CREBBP gene; however, studies suggest that EP300 mutations may be associated with milder skeletal changes in the hands and feet.

Some cases of severe Rubinstein-Taybi syndrome have resulted from a deletion of genetic material from the short (p) arm of chromosome 16. Several genes, including the CREBBP gene, are missing as a result of this deletion. Researchers believe that the loss of multiple genes in this region probably accounts for the serious complications associated with severe Rubinstein-Taybi syndrome.

About half of people with Rubinstein-Taybi syndrome do not have an identified mutation in the CREBBP or EP300 gene or a deletion in chromosome 16. The cause of the condition is unknown in these cases. Researchers predict that mutations in other genes are also responsible for the disorder.

Related Chromosome(s)

Changes involving this chromosome are associated with Rubinstein-Taybi syndrome.

  • chromosome 16

Related Gene(s)

Changes in these genes are associated with Rubinstein-Taybi syndrome.

  • CREBBP
  • EP300

Can Rubinstein-Taybi syndrome be inherited?

This condition is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of Rubinstein-Taybi syndrome?

These resources address the diagnosis or management of Rubinstein-Taybi syndrome and may include treatment providers.

  • Gene Review: Rubinstein-Taybi Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1526)
  • Genetic Testing Registry: Rubinstein-Taybi syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0035934)
  • MedlinePlus Encyclopedia: Rubinstein-Taybi syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/001249.htm)

You might also find information on the diagnosis or management of Rubinstein-Taybi syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Rubinstein-Taybi syndrome?

You may find the following resources about Rubinstein-Taybi syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Rubinstein-Taybi syndrome?

  • Broad Thumb-Hallux Syndrome
  • RSTS
  • RTS

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Rubinstein-Taybi syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Rubinstein-Taybi syndrome?

autosomal ; autosomal dominant ; cancer ; cell ; chromosome ; contiguous ; contiguous gene syndrome ; deletion ; disability ; failure to thrive ; gene ; hallux ; inheritance ; kidney ; leukemia ; mutation ; pattern of inheritance ; protein ; short stature ; stature ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet. 2007 May;44(5):327-33. Epub 2007 Jan 12. (http://www.ncbi.nlm.nih.gov/pubmed/17220215?dopt=Abstract)
  • Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanová E, Volleth M, Haaf T, Kalscheuer VM. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. 2006 Sep;120(2):179-86. Epub 2006 Jun 17. (http://www.ncbi.nlm.nih.gov/pubmed/16783566?dopt=Abstract)
  • Bartsch O, Schmidt S, Richter M, Morlot S, Seemanová E, Wiebe G, Rasi S. 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 Sep;117(5):485-93. Epub 2005 Jul 14. (http://www.ncbi.nlm.nih.gov/pubmed/16021471?dopt=Abstract)
  • Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med Genet. 2006 Oct 19;7:77. (http://www.ncbi.nlm.nih.gov/pubmed/17052327?dopt=Abstract)
  • Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, Taine L, Cruaud C, Lacombe D, Arveiler B. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet. 2002 Jun;39(6):415-21. (http://www.ncbi.nlm.nih.gov/pubmed/12070251?dopt=Abstract)
  • Gene Review: Rubinstein-Taybi Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1526)
  • Hallam TM, Bourtchouladze R. Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction. Cell Mol Life Sci. 2006 Aug;63(15):1725-35. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16786226?dopt=Abstract)
  • Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Genet. 2006 Sep;14(9):981-5. Epub 2006 Jul 26. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16868563?dopt=Abstract)
  • Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005 Apr;76(4):572-80. Epub 2005 Feb 10. (http://www.ncbi.nlm.nih.gov/pubmed/15706485?dopt=Abstract)
  • Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 2003 Jun 1;119A(2):101-10. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12749047?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2007
Published: September 29, 2014