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Other Names for this Disease
- Broad thumb-hallux syndrome
- Broad thumbs and great toes, characteristic facies, and mental retardation
- Rubinstein syndrome
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Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. 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. Treatment is symptomatic and supportive.
- 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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- 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.