Rubinstein-Taybi syndrome


Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degreess of mental retardation.


* Broadening of the thumbs and big toes * Constipation * Excess hair on body (hirsutism) * Heart defects possibly requiring surgery (about 30% of patients) * Mental retardation * Seizures * Short stature that is noticeable after birth * Slow development of cognitive skills * Slow development of motor skills accompanied by low muscle tone


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


The survival rate is good, with frequent reports of survival to adulthood. Affected children suffer from developmental delay, growth retardation and feeding difficulties. Respiratory tract infections and complications from congenital heart disease are primary causes of morbidity and mortality in infancy


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.