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Diseases

Genetic and Rare Diseases Information Center (GARD)

Rubinstein-Taybi syndrome


Other Names for this Disease
  • Rubinstein syndrome
  • Broad thumbs and great toes, characteristic facies, and mental retardation
  • RSTS
  • Broad thumb-hallux syndrome
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Overview

Rubinstein-Taybi syndrome is a condition characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. The condition may be caused by a mutation in the CREBBP or EP300 gene, or as the result of a very small loss (microdeletion) of genetic material from the short (p) arm of chromosome 16. In some affected people, the cause is unknown. While Rubinstein-Taybi syndrome can be inherited in an autosomal dominant manner, most cases result from a new (de novo) mutation in the responsible gene and are not inherited from a parent. Treatment is symptomatic and supportive.[1][2][3]
Last updated: 1/14/2016

References

  1. Rubinstein-Taybi syndrome. MedlinePlus. 2016; http://www.nlm.nih.gov/medlineplus/ency/article/001249.htm.
  2. Rubinstein-Taybi syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome.
  3. Stevens CA. Rubinstein-Taybi Syndrome. GeneReviews. August 7, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1526/.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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
  • Rubinstein syndrome
  • Broad thumbs and great toes, characteristic facies, and mental retardation
  • RSTS
  • Broad thumb-hallux 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.