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.
Alternative Names
Rubinstein syndrome, RTS
Causes, incidence, and risk factors
Rubinstein-Taybi syndrome is a rare condition. Most people with RTS have a defect in a gene that leads to abnormal protein substances called CREBBP and EP300.
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 while the baby grows in the womb, which was not passed on by either parent.
Narrow, small, or recessed mouth with crowded teeth
Prominent or "beaked" nose
Thick and arched eyebrows with long eyelashes
Undescended testicle (cryptorchidism), or other testicular problems
Signs and tests
The health care provider will perform a physical exam. Blood tests and x-rays will 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 Rubinstein-Taybi syndrome. Surgery to repair the bones in the thumbs or toes can sometimes improve grasp or relieve discomfort.
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
Complications depend on what part of the body is affected. Complications may include:
Feeding problems in infants
Repeated ear infections and hearing loss
Problems with the shape of the heart
Abnormal heartbeat
Scarring of the skin
Calling your health care provider
An appointment with a geneticist is recommended if the health care provider finds signs of Rubinstein-Taybi syndrome.
Prevention
Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.
References
Morelli JG. Disorders of the nails. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 662.
Review Date:
8/4/2011
Reviewed By:
Chad Haldeman-Englert, MD, Wake Forest University 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, Medical Director, A.D.A.M., Inc.
