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    Mandibuloacral Dysplasia

    Important
    It is possible that the main title of the report Mandibuloacral Dysplasia is not the name you expected.

    Disorder Subdivisions

    • MAD type A (MADA)
    • MAD type B (MADB)

    General Discussion

    Summary
    Mandibuloacral dysplasia (MAD) is an extremely rare genetic disorder characterized by underdevelopment (hypoplasia) of the lower jaw (mandible) and the collarbone (clavicle), bone loss at the ends of the fingers and toes (acro-osteolysis), skin degeneration (cutaneous atrophy), and partial lipodystrophy, a condition marked by selective loss of body fat (adipose tissue) from various areas of the body. Cutaneous atrophy and lipodystrophy may contribute to affected children having a prematurely-aged appearance (progeroid features). Lipodystrophy may be associated with clinical features of metabolic syndrome including insulin resistance, impaired glucose tolerance, and diabetes mellitus. Additional symptoms can occur as well. Two types of mandibuloacral dysplasia have been identified, type A and type B. Both types are inherited as autosomal recessive conditions. Mandibuloacral dysplasia type A (MADA) is caused by mutations of the lamin A/C (LMNA) gene; mandibuloacral dysplasia type B (MADB) is caused by mutations of the zinc metalloproteinase (ZMPSTE24) gene.

    Introduction
    Mandibuloacral dysplasia may be classified as a form of lipodystrophy or progeria because of its overlapping symptoms. Mandibuloacral dysplasia type A may also be classified as a laminopathy, a general term for the group of disorders associated with a mutation of the LMNA gene. The ZMPSTE24 mutation that causes mandibuloacral dysplasia type B can also cause restrictive dermopathy syndrome.

    Resources

    Progeria Research Foundation, Inc.
    2 Bourbon Street
    Suite 208
    Peabody, MA 01960
    USA
    Tel: (978)535-2594
    Fax: (978)535-5849
    Email: info@progeriaresearch.org
    Internet: http://www.progeriaresearch.org

    American Diabetes Association
    1701 N. Beauregard Street
    Alexandria, VA 22311
    Tel: (703)549-1500
    Fax: (703)549-6995
    Tel: (800)342-2383
    Email: askADA@diabetes.org
    Internet: http://www.diabetes.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 1/28/2013
    Copyright 2013 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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