Rubinstein-Taybi Syndrome /

Rubinstein-Taybi Syndrome (RTS), also known as Broad thumb-hallux syndrome or Rubinstein syndrome, is a condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition is inherited in an autosomal dominant pattern and is uncommon, occurring in an estimated 1 in 125,000 births. A case was described in 1957 by Michail, Matsoukas and Theodorou. In 1963 Jack Herbert Rubinstein and Hooshang Taybi described a larger series of cases. Typical features of the disorder include: A 2009 study found that children with RTS were more likely to be overweight and to have a short attention span, motor stereotypies, and poor coordination, and hypothesized that the identified CREBBP gene impaired motor skills learning. Mutations in the CREBBP gene cause Rubinstein–Taybi syndrome. The CREBBP gene makes a protein that helps control the activity of many other genes. The protein, called CREB-binding protein, plays an important