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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Your QuestionMy son suffers from Rubinstein-Taybi syndrome. Over the past year he has developed tremors affecting both upper extremities. I am wondering if there is a known cause associated with the disorder. My research seems to indicate there may be but I cannot find anything definitive.
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Rubinstein-Taybi syndrome may be caused by a mutation in the CREBBP or EP300 gene, or as the result of a very small deletion (microdeletion) of genetic material from the short (p) arm of chromosome 16. In some affected people, the cause is unknown. Researchers believe that these cases are due to mutations in other genes that have not yet been identified.
Last updated: 1/14/2016
- Stevens CA. Rubinstein-Taybi Syndrome. GeneReviews. August 7, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1526/.