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Rubinstein-Taybi syndrome


Other Names for this Disease

  • Broad thumb-hallux syndrome
  • Broad thumbs and great toes, characteristic facies, and mental retardation
  • RSTS
  • Rubinstein syndrome
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Overview

Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability.[1][2] The condition may be caused by mutations in the CREBBP gene, the EP300 gene, or as the result of a deletion of genetic material from the short (p) arm of chromosome 16. About half of people with Rubinstein-Taybi syndrome do not have an identified mutation or a deletion. The cause of the condition in these cases is unknown. While Rubinstein-Taybi syndrome is considered to have an autosomal dominant pattern of inheritance, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.[2] Treatment is symptomatic and supportive.[1]
Last updated: 3/17/2011

References

  1. Haldeman-Englert C. Rubinstein-Taybi syndrome. MedlinePlus. 2009; http://www.nlm.nih.gov/medlineplus/ency/article/001249.htm. Accessed 2/2/2011.
  2. Rubinstein-Taybi syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome. Accessed 3/17/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Rubinstein-Taybi syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Rubinstein-Taybi syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Broad thumb-hallux syndrome
  • Broad thumbs and great toes, characteristic facies, and mental retardation
  • RSTS
  • Rubinstein syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.