Definition of Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of mental retardation.
Causes, incidence, and risk factors
Rubinstein-Taybi syndrome is a rare condition, affecting about 1 in 125,000 people. Most people with RTS have a defect in a gene that leads to an abnormal CREB binding protein (CREBBP).
Signs and tests
Examination and testing may reveal:
There is no specific treatment for Rubinstein-Taybi syndrome. Symptoms such as 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.
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.
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. – 8/26/2009