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Rubinstein-Taybi syndrome

Rubinstein syndrome, RTS

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

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Causes

RTS is a rare condition. Variations in the genes CREBBP and EP300 are seen in some people with this condition.

Some people are missing the gene entirely. This is more typical in people with more severe problems.

Most cases are sporadic (not passed down through families). They are likely due to a new genetic defect that occurs either in the sperm or egg cells, or at the time of conception.

Symptoms

Symptoms include:

Other signs and symptoms may include:

Exams and Tests

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.

Treatment

There is no specific treatment for RTS. However, the following treatments can be used to manage problems commonly associated with the condition.

Support Groups

Special Friends Foundation -- specialfriends.org

Outlook (Prognosis)

The majority of children can learn to read at an elementary level. The majority of children have delayed motor development, but on average, they learn to walk by 2 1/2 years of age.

Possible Complications

Complications depend on what part of the body is affected. Complications may include:

When to Contact a Medical Professional

An appointment with a geneticist is recommended if the provider finds signs of RTS.

Prevention

Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.

Related Information

Short stature
Low-set ears and pinna abnormalities
Palpebral slant - eye

References

Burkardt DD, Graham JM. Abnormal body size and proportion. In: Pyeritz RE, Korf BR, Grody WW, eds. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications. 7th ed. Cambridge, MA: Elsevier Academic Press; 2019:chap 4.

Nussbaum RL, McInnes RR, Willard HF. Developmental genetics and birth defects. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia, PA: Elsevier; 2016:chap 14.

Stevens CA. Rubinstein-Taybi syndrome. Gene Reviews [Internet]. 2019;8. PMID: 20301699 pubmed.ncbi.nlm.nih.gov/20301699/. Updated August 22, 2019. Accessed October 29, 2021.

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Review Date: 7/30/2021  

Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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