Rubinstein-Taybi syndrome is a genetic disease characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of mental retardation.
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).
About 10% of patients, typically with more severe problems, are missing the gene entirely and do not make any CREBBP.
Most cases are sporadic (not inherited) and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if just one parent passes on the defective gene, the child will be affected.
Examination and testing may reveal:
Genetic tests can be done to determine if the CREBBP gene is missing.
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.
Rubinstein-Taybi Parents Group USA -- www.rubinstein-taybi.org
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 depend on what the symptoms are. Feeding difficulties are common in infancy. Recurrent ear infections with hearing loss can result.
There may be abnormal heart structures at birth and abnormal heart rhythms.
There is an increased risk for keloid formation of the skin.
Call for an appointment with your health care provider if you child does not seem to be developing normally. An appointment with a geneticist is appropriate if the provider finds signs of Rubinstein-Taybi syndrome such as broad thumbs and toes.
Genetic counseling is advised for couples with a family history of this disease who are planning a pregnancy.
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.