Rubinstein-Taybi syndrome
Alternate Names : Rubinstein syndrome
Definition
Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of mental retardation.
Overview, Causes, & Risk Factors
Rubinstein-Taybi syndrome is a rare condition, affecting about 1 in 125,000 people. Most people with RTS have a defect in a gene that leads to an abnormal CREB binding protein (CREBBP). About 10% of patients, typically with more severe problems, are missing the gene entirely and do not make any CREBBP.
Most cases are sporadic (not inherited) and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if just one parent passes on the defective gene, the child will be affected.
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