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    Megalencephaly-Capillary Malformation

    Important
    It is possible that the main title of the report Megalencephaly-Capillary Malformation is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    Disorder Subdivisions

    • None

    General Discussion

    Summary
    Megalencephaly-capillary malformation syndrome (MCAP), formerly known as macrocephaly-capillary malformation, is a rare, complex disorder involving the skin, connective tissue, brain and other organs that is usually present at birth. Affected individuals have a disproportionately large head and capillary malformations on the skin of the midline face, trunk and limbs. These capillary malformations often show a lacy or reticulated pattern (resembling a net or web, and are sometimes termed "cutis marmorata"). Most children with MCAP have an enlarged brain (or megalencephaly), in addition to other findings on brain MRI associated with neurologic problems.

    Introduction
    Multiple terms have been used in the past for this syndrome. The earliest one was macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) because the vascular lesions were mistakenly believed to be consistent with CMTC. However, careful examination of the skin in these children revealed that the vascular lesions are not CMTC but rather capillary malformations (described below), and so the syndrome was accurately renamed to "macrocephaly-capillary malformation syndrome" (or M-CM). Recently, the name was modified from this latter term to "megalencephaly-capillary malformation" (or MCAP, in short) because the term "macrocephaly" refers to a large head due various causes, whereas "megalencephaly" is a more specific and accurate term that refers to the truly enlarged brain present in this syndrome.

    Resources

    Nevus Network
    PO Box 305
    West Salem, NC 44287
    USA
    Tel: (419)853-4525
    Fax: (405)377-3403
    Email: info@nevusnetwork.org
    Internet: http://www.nevusnetwork.org/

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
    Information Clearinghouse
    One AMS Circle
    Bethesda, MD 20892-3675
    USA
    Tel: (301)495-4484
    Fax: (301)718-6366
    Tel: (877)226-4267
    TDD: (301)565-2966
    Email: NIAMSinfo@mail.nih.gov
    Internet: http://www.niams.nih.gov/

    Vascular Birthmarks Foundation
    P.O. Box 106
    Latham, NY 12110
    USA
    Tel: (877)823-4646
    Email: hvbf@aol.com
    Internet: http://www.birthmark.org

    CMTC-OVM Association
    Bitterschoten 15
    Leusdan, 3831 PC
    The Netherlands
    Tel: 31334946671
    Email: president@cmtc.nl
    Internet: http://www.cmtc.nl

    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/

    National Organization of Vascular Anomalies
    PO Box 38216
    Greensboro, NC 27438-8216
    Email: admin@mail.novanews.org
    Internet: http://www.novanews.org

    M-CM Network
    PO Box 97
    Chatham, NY 12037
    USA
    Internet: http://www.m-cm.net

    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: 12/8/2011
    Copyright 2006, 2011 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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