Other Names for this Disease
- Rubinstein syndrome
- Broad thumbs and great toes, characteristic facies, and mental retardation
- Broad thumb-hallux syndrome
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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.Rubinstein-Taybi syndrome is a condition characterized by broad thumbs and toes,
Last updated: 1/14/2016
- Rubinstein-Taybi syndrome. MedlinePlus. 2016; http://www.nlm.nih.gov/medlineplus/ency/article/001249.htm.
- Rubinstein-Taybi syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome.
- Stevens CA. Rubinstein-Taybi Syndrome. GeneReviews. August 7, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1526/.
- The American Association for Pediatric Ophthalmology and Strabismus provides a patient information sheet on Rubinstein-Taybi syndrome. Click on the link to view this 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.