Medical Definition of Werner syndrome

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Reviewed on 10/30/2018

Werner syndrome: A premature aging disease that begins in adolescence or early adulthood and results in apparent old age by 30'40 years of age. Characteristic features include short stature, premature graying, early baldness, wizened face, beaked nose, cataracts, skin changes reminiscent of those in scleroderma, deposits of calcium beneath the skin, premature arteriosclerosis, and a tendency to diabetes and to tumors (especially osteosarcoma and meningioma). Werner syndrome is inherited in an autosomal recessive manner and is due to mutation in the WRN gene on chromosome 8, which encodes RecQ DNA helicase, an enzyme that catalyzes the unwinding of DNA.

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Reviewed on 10/30/2018