Wikipedia Precis

This revision: 26th April 2013 .
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Rubinstein–Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome,[1] is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes.

Other features of the disorder vary among affected individuals.. This condition is sometimes inherited as an autosomal dominant pattern and is uncommon, many times it occurs as a de novo (not inherited) occurrence, it occurs in an estimated 1 in 125,000-300,000 births.

A 2009 study found that children with RTS were more likely to be overweight and to have a short attention span, motor stereotypies, and poor coordination, and hypothesized that the identified CREBBP gene impaired motor skills learning.[7]

Other research has shown a link with long-term memory (LTM) deficit.[8][9][10]

Useful Links

RTS Support Group (UK)

The Rubinstein-Taybi Syndrome UK Support Group is a registered charity which offers support to families and helps to raise awareness of the condition. Their site provides information, links and an active web forum.

RTS Association (US)

This site provides a wealth of information for families and professionals. The Association maintain a mailing list providing support and discussion for affected families.

RTS at GeneTests

Clinical references on RTS from the University of Washington focussed on the gene mutations thought to be involved and current progress towards accurate means of testing for them.

Special Friends Foundation

The Special Friends Foundation (SFF) is a nonprofit organization established in 1997 by Chris and Carol Garavente. Their son, Louis, is diagnosed with Rubinstein Taybi Syndrome. The Special Friends Foundation is dedicated to providing information and resources to individuals with RTS and their families.

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