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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
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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