Rubinstein-Taybi Syndrome

A rare genetic disease that is characterized by broad toes and thumbs, short stature, distinctive facial features, seizures, heart and kidney defects, eye abnormalities and varying degrees of intellectual disability. Mutations in the CREBBP and the EP300 genes are responsible for some cases of Rubinstein-Taybi syndrome. The condition is considered to have an autosomal dominant pattern of inheritance, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.