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    Progeria

    Hutchinson-Gilford progeria syndrome; HGPS

    Progeria is a rare genetic condition that produces rapid aging in children.

    Causes

    Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children. It usually is not passed down through families. Rarely is it seen in more than one child in a family.

    Symptoms

    • Growth failure during the first year of life
    • Narrow, shrunken or wrinkled face
    • Baldness
    • Loss of eyebrows and eyelashes
    • Short stature
    • Large head for size of face (macrocephaly)
    • Open soft spot (fontanelle)
    • Small jaw (micrognathia)
    • Dry, scaly, thin skin
    • Limited range of motion
    • Teeth - delayed or absent formation

    Exams and Tests

    The health care provider will perform a physical exam and order laboratory tests. This may show:

    • Insulin resistance
    • Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)
    • Generally normal cholesterol and triglyceride levels

    Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.

    Genetic testing can detect changes in the gene (LMNA) that causes progeria.

    Treatment

    There is no specific treatment for progeria, but aspirin and statin medications may be used to protect against a heart attack or stroke.

    Support Groups

    Progeria Research Foundation, Inc. -- www.progeriaresearch.org

    Outlook (Prognosis)

    Progeria causes early death. Patients usually only live to their teenage years (average lifespan of 13 years). However, some patients can live into their early 20s. The cause of death is usually related to the heart or a stroke.

    • Heart attack (myocardial infarction)
    • Stroke

    When to Contact a Medical Professional

    Call for an appointment with your health care provider if your child does not appear to be growing or developing normally.

    References

    Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. 2003 Dec 12 [Updated 2011 Jan 6]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013.

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      Review Date: 9/8/2013

      Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

      The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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      St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
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