Rubinstein-Taybi syndrome

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Polydactyly - an infant's hand

Rubinstein syndrome

There is no specific treatment for Rubinstein-Taybi syndrome. Symptoms such as mental retardation are treated as necessary with speech and cognitive therapy. Surgical repair of thumbs or great toes can sometimes improve grasp or relieve discomfort. Treatment may not be necessary in all cases.

Additional resources are available from the Rubinstein-Taybi Parents Group USA. Call 888-447-2989. www.rubinstein-taybi.org

The majority of children can learn to read at an elementary level. The majority have delayed motor development, but on average, they learn to walk by 2 1/2 years of age.

• Complications vary depending on the symptoms that are present.
• Feeding difficulties are common in infancy.
• Recurrent ear infections with hearing loss can result.
• Abnormal heart structures at birth and abnormal heart rhythms have been reported.
• There is an increased risk for keloid formation of the skin.

Call for an appointment with your health care provider if you child does not seem to be developing normally. An appointment with a geneticist is appropriate if the provider finds signs of Rubinstein-Taybi syndrome such as broad thumbs and toes.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.