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Genetic and Rare Diseases Information Center (GARD)

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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My 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.


Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes Rubinstein-Taybi syndrome?

Rubinstein-Taybi syndrome 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 in the CREBBP or EP300 gene or a deletion in chromosome 16. The cause of the condition in these cases is unknown. Researchers predict that mutations in other genes are also responsible for the disorder.[1]

To learn more about how these mutations cause the symptoms associated with Rubinstein-Taybi syndrome, click here.
Last updated: 3/17/2011

References
Other Names for this Disease
  • Broad thumb-hallux syndrome
  • Broad thumbs and great toes, characteristic facies, and mental retardation
  • RSTS
  • Rubinstein syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.