Gourt > Health > Conditions and Diseases > Rare Disorders > Rubinstein Taybi Syndrome
Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe mental retardation, 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 inherited in an autosomal dominant pattern and is uncommon occurring in an estimated 1 in 125,000 births.
Features of Rubinstein-Taybi syndrome
An isolated case was described in 1957 by Michail and Matsoukas. In 1963 Rubinstein and Taybi described a larger series of cases. Typical features of the disorder include:
- Broad thumbs and broad first toes
- Mental retardation
- Retarded height, bone age, small head
- Cryptorchidism in males
- Unusual faces - eyes, nose, palate
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Musculoskeletal Disorders
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Rubinstein Taybi Syndrome Support Group (UK) - Information, forum, links, contacts, and guestbook.
Rubinstein-Taybi Syndrome - A site devoted to the families and people diagnosed with this syndrome.
The CaF Directory - A description of rubinstein taybi syndrome, its inheritance pattern, psychological and behavoural characteristics and a support group for those living in the United Kingdom.
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