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Rubinstein–Taybi syndrome
Rare genetic condition / From Wikipedia, the free encyclopedia
Rubinstein–Taybi syndrome (RTS) is a rare genetic condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes.[2] Other features of the disorder vary among affected individuals. These characteristics are caused by a mutation or deletion in the CREBBP gene, located on chromosome 16, and/or the EP300 gene, located on chromosome 22.[3]
Quick Facts Other names, Specialty ...
Rubinstein–Taybi syndrome | |
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Other names | Broad thumb-hallux syndrome or Rubinstein syndrome[1] |
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Child displaying characteristic facial features of Rubinstein–Taybi syndrome | |
Specialty | Medical genetics ![]() |
Causes | mutation or deletion in the CREBBP gene, located on chromosome 16, and/or the EP300 gene, located on chromosome 22. |
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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, but often as a de novo. It affects an estimated 1 in 125,000-300,000 births.