Rubinstein–Taybi syndrome
Rare genetic condition / From Wikipedia, the free encyclopedia
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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]
Rubinstein–Taybi syndrome | |
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Other names | Broad thumb-hallux syndrome or Rubinstein syndrome[1] |
Child with 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. |
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.