genetic disorder


"Rubinstein-Taybi syndrome (RTS) is a genetic disease that involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability."

Mutation in the CREBBP gene

Rubinstein -Taybi syndrome is caused by a mutation in the CREBBB gene, which provides instructions to build binding proteins. The role of this protein is to regulate cell growth and division, also to provoke cells to grow and differentiate.

Symptoms, Diagnosis and Frequency

Symptoms include; brooded toes and fingers, hirsutism, heart defects, intellectual disabilities, and in more extreme conditions, an extra kidney, slanted eyes, and a "beaked" nose. It can be diagnosed through physical exams, blood tests, and even genetic testing. The mutation leading to Rubinstein in very rare, 1 per 300,00 people.

Genetic transmission

Rubinstein-Taybi is not passed down through genetics, but instead is caused by a mutation. If a copy of this gene is missing or has formed a mutation, the cells make only half of the CREB binding protein.

Life expectancy and treatment

Although it may present difficulties living with it, Rubinstein-Taybi does not seem to have any effect on the lifespan of a carrier. There is no cure or treatment, surgery may be preformed to relieve discomfort in the bones.

Interesting facts

  • The recurrence rick of Rt's in a second child of the same parents is .1%
  • RT is found evenly within the male and female population
  • People with RT tend to be shorter and stubbly
"Rubinstein-Taybi Syndrome." - Genetics Home Reference. N.p., n.d. Web. 15 Jan. 2014.

"CREBBP." - CREB Binding Protein. N.p., n.d. Web. 15 Jan. 2014.

Board, A.D.A.M. Editorial. Rubinstein-Taybi Syndrome. U.S. National Library of Medicine, 08 Apr. 2011. Web. 15 Jan. 2014.

"RTS Pamplet." RTS Pamplet. N.p., n.d. Web. 15 Jan. 2014.

N.d. Photograph. Http:// Web.