Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder that is characterized by varying degrees of intellectual disabilities (formerly known as mental retardation), distinct facial features, and broad thumbs and first toes. The disorder is often detected in newborns because the physical features are apparent at birth.
There are many complications associated with RSTS, including heart and kidney defects, obesity, ear infections, and difficulty swallowing. Furthermore, patients with the disorder have an increased risk of developing cancerous and noncancerous tumors, as well as leukemia.
Some cases of RSTS are inherited, but most are caused by random genetic mutations or chromosomal deletions during the development of the egg, sperm, or embryo. About 50% of people with RSTS either have mutations in specific genes or are missing a part of chromosome 16. The other 50% of RSTS cases occur for unknown reasons. Therefore, researchers believe that other genes may be involved in RSTS.
RSTS is estimated to affect one out of 10,000-300,000 births. However, most researchers estimate that the incidence is about one out of 100,000-125,000 births. Males and females are equally affected, and it does not appear to affect any particular race or ethnicity more than others.
Currently, there is no known cure for RSTS. However, treatment, such as special education and occupational therapy, can help people cope with the disorder. Many people with RSTS are able to live long, healthy lives, but a person's prognosis depends on whether or not life-threatening complications, such as cancer, occur.
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