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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]
References
- Haldeman-Englert C. Rubinstein-Taybi syndrome. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001249.htm. Accessed February 2, 2011.
- Rubinstein-Taybi syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome. Accessed March 17, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Rubinstein-Taybi syndrome. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this 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 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Rubinstein-Taybi syndrome. Click on the link to go to OMIM and review these resources.