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Medical Health Encyclopedia
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Rubinstein-Taybi syndrome

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Polydactyly - an infant's hand
Polydactyly - an infant's hand


Rubinstein-Taybi syndrome

Definition:

Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature, and characteristic facial features.

Alternative Names:
Rubinstein syndrome

Text Continues Below



Causes, incidence, and risk factors:

Rubinstein-Taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. The gene involved in RTS, which is called CREB binding protein (CREBBP), was identified in 1995.

Most patients have mutations in the gene, resulting in an abnormal CREB binding protein. About 10% of patients, typcially with more severe problems, have an outright deletion of the gene and they do not make any of the protein.

Most cases are sporadic and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if one parent passes on the defective gene, the child will be affected.

The classic feature is broad thumbs and great toes, but typically there is also short stature, unusual face, low-set ears, port-wine-stain, undescended testicles in the male, and downward slant of the eyes.



A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

 







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