Other Names for this Disease
- Broad thumb-hallux syndrome
- Broad thumbs and great toes, characteristic facies, and mental retardation
- Rubinstein syndrome
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.Rubinstein-Taybi syndrome is a condition characterized by broad thumbs and toes,
Last updated: 12/2/2014
- Haldeman-Englert C. Rubinstein-Taybi syndrome. MedlinePlus. 2009; http://www.nlm.nih.gov/medlineplus/ency/article/001249.htm. Accessed 2/2/2011.
- Rubinstein-Taybi syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome. Accessed 3/17/2011.
- Cathy A Stevens. Rubinstein-Taybi Syndrome. GeneReviews. August 7, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1526/. Accessed 12/2/2014.
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