Rubinstein-taybi syndrome
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Rubinstein-Taybi syndrome is a rare, genetic disease characterized by short stature, broad thumbs and toes, distinctive facial features and various levels of mental retardation. It affects 1 in 125,000 people. It is caused by a gene defect that causes an abnormal CRED binding protein. Rubinstein-Taybi syndrome can be inherited in an autosomal dominant way or passed on by either parent during fetal development. Symptoms of Rubinstein-Taybi syndrome include constipation, excess hair on the body, heart defects that require surgery, mental retardation, seizures and slow development of cognitive and motor skills. There is no specific treatment available for Rubinstein-Taybi syndrome.
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