Rothmund-Thomson syndrome: A hereditary disease that is characterized by progressive effects on multiple areas of the body, including the skin, hair, eyelashes, teeth, musculoskeletal system, blood, and eyes. Patients have an increased risk for developing cancer, especially osteosarcoma and skin cancer. Abbreviated RTS. RTS is inherited as an autosomal recessive trait and is caused by mutations in the RECQL4 gene on chromosome 8. This gene encodes a DNA helicase, an enzyme that promotes DNA unwinding, which permits many basic cellular processes to take place. Also known as poikiloderma congenita and poikiloderma atrophicans with cataract.
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Last Editorial Review: 1/24/2017