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    Chromosome 22q11.2 Deletion Syndrome

    Important
    It is possible that the main title of the report Chromosome 22q11.2 Deletion 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

    Disorder Subdivisions

    • None

    General Discussion

    Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities such as thyroid problems and growth hormone deficiency, gastrointestinal problems, feeding difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differences, and learning and behavioral differences. The symptoms of this condition are extremely variable, even among members of the same family.

    Chromosome 22q11.2 deletion syndrome is a disorder caused by a small piece of chromosome 22 missing. A number of separately described diagnoses including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), autosomal dominant OpitzG/BBB syndrome and Cayler Cardiofacial syndrome were all originally thought to be separate disorders before the chromosome 22q11. 2 deletion was identified in individuals affected with all of these conditions.

    Resources

    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

    Hypoparathyroidism Association, Inc.
    PO Box 2258
    Idaho Falls, ID 83403
    Tel: (866)213-0394
    Fax: (205)524-3857
    Tel: (866)213-0394
    Email: hpth@hypopara.org. hpth@hypopara.org. hpth@hypopara.org. hpth@hypopara.org
    Internet: http://www.hypopara.org

    Velo-Cardio-Facial Syndrome Educational Foundation
    P.O. Box 12591
    Dallas, TX 75225
    USA
    Tel: (214)360-4740
    Email: info@vcfsef.org
    Internet: http://www.vcfsef.org

    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

    NIH/National Institute of Dental and Craniofacial Research
    Building 31, Room 2C39
    31 Center Drive, MSC 2290
    Bethesda, MD 20892
    USA
    Tel: (301)496-4261
    Fax: (301)480-4098
    Tel: (866)232-4528
    Email: nidcrinfo@mail.nih.gov
    Internet: http://www.nidcr.nih.gov/

    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

    NIH/National Institute on Deafness and Other Communication Disorders
    31 Center Drive, MSC 2320
    Communication Avenue
    Bethesda, MD 20892-3456
    Tel: (301)402-0900
    Fax: (301)907-8830
    Tel: (800)241-1044
    TDD: (800)241-1105
    Email: nidcdinfo@nidcd.nih.gov
    Internet: http://www.nidcd.nih.gov

    "22q and You" Center
    The Children's Hospital of Philadelphia
    Donna M. McDonald-McGinn, MS, CGC, Program Director
    34th Street and Civic Center Boulevard Room 8C05
    Philadelphia, PA 19104
    Tel: (215)590-2920
    Fax: (215)590-3298
    Tel: (800)879-2467
    Email: Alice Bailey - baileya1@email.chop.edu or genetics@email.chop.edu
    Internet: http://www.chop.edu/service/22q-and-you-center/home.html

    Chromosome 22 Central
    c/o Murney Rinholm
    7108 Partinwood Drive
    Fuquay-Varina, NC 27526
    USA
    Tel: (919)567-8167
    Email: murney.rinholm@c22c.org
    Internet: http://www.c22c.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/

    International 22q11.2 Deletion Syndrome Foundation, Inc.
    P.O. Box 2269
    Cinnaminson, NJ 08077
    Tel: (877)739-1849
    Email: info@22q.org
    Internet: http://www.22q.org

    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: 4/28/2010
    Copyright 1991, 1993, 1996, 1997, 1998, 2004, 2010 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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