July 23, 2016
font size

Definition of Rothmund-Thomson syndrome

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.

Source: MedTerms™ Medical Dictionary
Last Editorial Review: 3/19/2012

Drug Medical Dictionary of Terms by Letter

Top RxList Drug News

Women's Health

Find out what women really need.

Use Pill Finder Find it Now See Interactions

Pill Identifier on RxList

  • quick, easy,
    pill identification

Find a Local Pharmacy

  • including 24 hour, pharmacies

Interaction Checker

  • Check potential drug interactions
Search the Medical Dictionary for Health Definitions & Medical Abbreviations