Rubinstein syndrome, RTS DefinitionRubinstein-Taybi syndrome (RTS) is a genetic disease. It involves broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. CausesRTS is a rare condition. Variations in the genes CREBBP or 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 variant that occurs either in the sperm or egg cells, or at the time of conception. SymptomsSymptoms include:
Other signs and symptoms may include:
Exams and TestsYour 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. TreatmentThere is no specific treatment for RTS. However, the following treatments can be used to manage problems commonly associated with the condition.
Support GroupsMore information and support for people with RTS and their families can be found at:
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 ComplicationsComplications depend on what part of the body is affected. Complications may include:
When to Contact a Medical ProfessionalAn appointment with a geneticist is recommended if your provider finds signs of RTS. PreventionGenetic counseling is advised for couples with a family history of this disease who are planning a pregnancy. ReferencesBurkardt 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. Jones KL, Jones MC, Campo MD. Very small stature, not skeletal dysplasia. In: Jones KL, Jones MC, Campo MD, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:100-133. Wynshaw-Boris A, Klein O. Developmental genetics and birth defects. In: Cohn RD, Scherer SW, Hamosh A, eds. Thompson & Thompson Genetics and Genomics in Medicine. 9th ed. Philadelphia, PA: Elsevier; 2024:chap 15. | |
| |
Review Date: 9/18/2023 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 C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. | |
| |
