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    Pallister Killian Mosaic Syndrome

    Important
    It is possible that the main title of the report Pallister Killian Mosaic Syndrome 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

    • Chromosome 12, Isochromosome 12p syndrome
    • Killian Syndrome
    • Killian/Teschler-Nicola Syndrome
    • Pallister Mosaic Syndrome
    • Tetrasomy 12p, mosaic
    • Teschler-Nicola/Killian Syndrome

    Disorder Subdivisions

    • None

    General Discussion

    Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present.

    Resources

    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

    Chromosome Disorder Outreach, Inc.
    P.O. Box 724
    Boca Raton, FL 33429-0724
    USA
    Tel: (561)395-4252
    Fax: (561)395-4252
    Email: info@chromodisorder.org
    Internet: http://www.chromodisorder.org/CDO/

    UNIQUE - Rare Chromosome Disorder Support Group
    P.O. Box 2189
    Caterham
    Surrey, CR3 5GN
    United Kingdom
    Tel: 4401883330766
    Fax: 4401883330766
    Email: info@rarechromo.org
    Internet: http://www.rarechromo.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/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    PKS Kids
    PO Box 94
    Florissant, MO 63032-0094
    Email: zanehome@optonline.net
    Internet: http://www.pkskids.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: 5/21/2008
    Copyright 1992, 2000, 2002, 2003 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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