• Home

Home > Medical Reference > Encyclopedia (English)

Toggle: English / Spanish

Rubinstein-Taybi syndrome

• Overview
• Symptoms
• Treatment
• Prevention

Definition:

Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degreess of mental retardation.

Alternative Names:

Rubinstein syndrome

Causes, incidence, and risk factors:

Rubinstein-Taybi syndrome is a rare condition, affecting about 1 in 125,000 people. Most persons with RTS have a defect in a gene that leads to an abnormal CREB binding protein (CREBBP).

About 10% of patients, typically with more severe problems, are missing the gene entirely and do not make any CREBBP.

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.

• Review Date: 7/1/2007
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

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 1997-2007 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.