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This site provides a wealth of information for families and professionals.
The Rubinstein-Taybi Syndrome UK Support Group is a registered charity which offers support to families and helps to raise awareness of the condition. .
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Rubinstein-Taybi syndrome (RTS), also known as broad thumb-hallux syndrome or Rubinstein syndrome, 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.
People with this condition have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma.
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. Other research has shown a link with long-term memory (LTM) deficit.