Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Rubinstein-Taybi syndrome


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

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 deletion of genetic material from the short (p) arm of chromosome 16. In some affected people, the cause is unknown. While Rubinstein-Taybi syndrome is inherited in an autosomal dominant manner, most cases result from a new mutation in the responsible gene and are not inherited from a parent. Treatment is symptomatic and supportive.[1][2][3]
Last updated: 12/2/2014

References

  1. Haldeman-Englert C. Rubinstein-Taybi syndrome. MedlinePlus. 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001249.htm. Accessed 1/31/2015.
  2. Rubinstein-Taybi syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome. Accessed 3/17/2011.
  3. Cathy A Stevens. Rubinstein-Taybi Syndrome. GeneReviews. August 7, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1526/. Accessed 1/31/2015.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

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. 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
  • Broad thumb-hallux syndrome
  • Broad thumbs and great toes, characteristic facies, and mental retardation
  • Broad thumbs-halluces syndrome
  • 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.