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.
Rubinstein-Taybi syndrome is a rare condition. Defects in the genes CREBBP and EP300 are seen in some people with this condition.
Some patients, typically with more severe problems, are missing the gene entirely.
Most cases are sporadic (not passed down through families) and likely due to a new genetic defect that occurs either in the sperm or egg cells, or at the time of conception.
Other signs and symptoms may include:
The health care provider will perform a physical exam. Blood tests and x-rays may also be done.
Genetic tests can be done to determine if the genes involved in this disease are missing or changed.
There is no specific treatment for Rubinstein-Taybi syndrome. Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort.
Rubinstein-Taybi Parents Group USA -- www.rubinstein-taybi.org
The majority of children can learn to read at an elementary level. The majority have delayed motor development, but on average, they learn to walk by 2 1/2 years of age.
Complications depend on what part of the body is affected. Complications may include:
An appointment with a geneticist is recommended if the health care provider finds signs of Rubinstein-Taybi syndrome.
Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.
Rubinstein syndrome, RTS
Stevens CA. Rubinstein-Taybi Syndrome. 2002 Aug 30 [Updated 2009 Aug 20]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013.
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.
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