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Alternative Names Return to topRubinstein syndrome
Definition Return to top
Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degreess of mental retardation.
Causes Return to top
Rubinstein-Taybi syndrome is a rare condition, affecting about 1 in 125,000 people. Most persons with RTS have a defect in a gene that leads to an abnormal CREB binding protein (CREBBP).
About 10% of patients, typically with more severe problems, are missing the gene entirely and do not make any CREBBP.
Most cases are sporadic and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if one parent passes on the defective gene, the child will be affected.
Symptoms Return to top
Exams and Tests Return to top
Examination and testing may reveal:
Genetic tests can be done to determine if the CREBBP gene is missing.
Treatment Return to top
There is no specific treatment for Rubinstein-Taybi syndrome. Symptoms such as mental retardation are treated as necessary with speech and cognitive therapy. Surgical repair of thumbs or great toes can sometimes improve grasp or relieve discomfort. Treatment may not be necessary in all cases.
Support Groups Return to top
Rubinstein-Taybi Parents Group USA -- www.rubinstein-taybi.org
Outlook (Prognosis) Return to top
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.
Possible Complications Return to top
Complications depend on the symptoms that are present. Feeding difficulties are common in infancy. Recurrent ear infections with hearing loss can result.
Abnormal heart structures at birth and abnormal heart rhythms have been reported.
There is an increased risk for keloid formation of the skin.
When to Contact a Medical Professional Return to top
Call for an appointment with your health care provider if you child does not seem to be developing normally. An appointment with a geneticist is appropriate if the provider finds signs of Rubinstein-Taybi syndrome such as broad thumbs and toes.
Prevention Return to top
Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.Update Date: 7/1/2007 Updated by: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.