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    X-linked Opitz G/BBB syndrome

    Important
    It is possible that the main title of the report X-linked Opitz G/BBB 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

    • XLOS
    • Opitz BBBG syndrome
    • Opitz-G syndrome
    • telecanthus-hypospadius syndrome (obsolete)
    • hypertelorism-hypospadius syndrome (obsolete)

    Disorder Subdivisions

    • None

    General Discussion

    X-linked Opitz G/BBB syndrome is a rare genetic disorder characterized by facial anomalies, respiratory and genitourinary abnormalities and other midline defects as well as developmental delay or mental retardation. There is a wide variation in severity of this condition, even among members of the same family. X-linked Opitz G/BBB syndrome is an X-linked genetic condition associated with alterations (mutations) in the MID1 gene.

    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

    FACES: The National Craniofacial Association
    PO Box 11082
    Chattanooga, TN 37401
    Tel: (423)266-1632
    Fax: (423)267-3124
    Tel: (800)332-2373
    Email: faces@faces-cranio.org
    Internet: http://www.faces-cranio.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

    Cleft Palate Foundation
    1504 East Franklin Street
    Suite 102
    Chapel Hill, NC 27514-2820
    USA
    Tel: (919)933-9044
    Fax: (919)933-9604
    Tel: (800)242-5338
    Email: info@cleftline.org
    Internet: http://www.cleftline.org

    National Foundation for Facial Reconstruction
    333 East 30th Street, Lobby Unit
    New York, NY 10016
    Tel: (212)263-6656
    Fax: (212)263-7534
    Internet: http://www.nffr.org

    AboutFace International
    123 Edward Street, Suite 1003
    Toronto
    Ontario, M5G 1E2
    Canada
    Tel: 4165972229
    Fax: 4165978494
    Tel: 8006653223
    Email: info@aboutfaceinternational.org
    Internet: http://www.aboutface.ca/

    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/

    Cleft Lip and Palate Foundation of Smiles
    2044 Michael Ave SW
    Wyoming, MI 49509
    Tel: (616)329-1335
    Email: Rachelmancuso09@comcast.net
    Internet: http://www.cleftsmile.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: 1/17/2012
    Copyright 1988, 1989, 2002, 2009, 2012 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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