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    Penta X Syndrome

    Important
    It is possible that the main title of the report Penta X 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

    • 49,XXXXX Syndrome
    • XXXXX Syndrome
    • 49, XXXXX Chromosome Constitution
    • 49, XXXXX Karyotype
    • Pentasomy X

    Disorder Subdivisions

    • None

    General Discussion

    Penta X Syndrome is a rare chromosomal disorder that affects females. Females normally have two X chromosomes. However, in those with Penta X Syndrome, there are three additional (or a total of five) X chromosomes in the nuclei of body cells (pentasomy X). The condition is typically characterized by moderate to severe mental retardation, short stature, malformations of the skull and facial (craniofacial) region, and/or other physical abnormalities. Characteristic craniofacial malformations may include upslanting eyelid folds (palpebral fissures), a flat nasal bridge, malformed ears, a short neck with a low hairline, and/or other findings. Penta X Syndrome may also be characterized by abnormal deviation (clinodactyly) or permanent flexion (camptodactyly) of the "pinkies" or fifth fingers; heart and/or kidney defects; deficient development of the ovaries and uterus; and/or other physical findings. The disorder results from errors during the division of reproductive cells in one of the parents.

    Resources

    Children's Craniofacial Association
    13140 Coit Road
    Suite 517
    Dallas, TX 75240
    USA
    Tel: (214)570-9099
    Fax: (214)570-8811
    Tel: (800)535-3643
    Email: contactCCA@ccakids.com
    Internet: http://www.ccakids.com

    Support Organization for Trisomy 18, 13, and Related Disorders
    2982 S. Union Street
    Rochester, NY 14624-1926
    Fax: (585)594-1957
    Tel: (800)716-7638
    Email: barbv@trisomy.org
    Internet: http://www.trisomy.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

    National Dissemination Center for Children with Disabilities
    1825 Connecticut Ave NW, Suite 700
    Washington, DC 20009
    USA
    Tel: (202)884-8200
    Fax: (202)884-8441
    Tel: (800)695-0285
    TDD: (800)695-0285
    Email: nichcy@aed.org
    Internet: http://www.nichcy.org

    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

    AmeriFace
    P.O. Box 751112
    Limekiln, PA 19535
    USA
    Tel: (702)769-9264
    Fax: (702)341-5351
    Tel: (888)486-1209
    Email: info@ameriface.org
    Internet: http://www.ameriface.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/

    American Heart Association
    7272 Greenville Avenue
    Dallas, TX 75231
    Tel: (214)784-7212
    Fax: (214)784-1307
    Tel: (800)242-8721
    Email: Review.personal.info@heart.org
    Internet: http://www.heart.org

    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

    Craniofacial Foundation of America
    975 East Third Street
    Chattanooga, TN 37403
    Tel: (423)778-9176
    Fax: (423)778-8172
    Tel: (800)418-3223
    Email: terry.smyth@erlanger.org
    Internet: http://www.craniofacialfoundation.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/

    Focus Foundation, Inc.
    PO Box 190
    Davidsonville, MD 21035
    Tel: (443)223-7323
    Fax: (410)798-4801
    Email: info@thefocusfoundation.org
    Internet: http://www.thefocusfoundation.org

    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: 5/5/2008
    Copyright 1991, 2001, 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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