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    Schimke Immuno-osseous Dysplasia

    Important
    It is possible that the main title of the report Schimke Immuno-osseous Dysplasia 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

    • immunoosseous dysplasia, Schimke type
    • SIOD

    Disorder Subdivisions

    • None

    General Discussion

    Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder that is inherited in an autosomal recessive pattern. It usually manifests first with growth failure. Other features of the disease are generally noted in the ensuing evaluation of the growth failure or develop in the following years. According to the severity of the clinical features and the age of onset, SIOD has been divided into an infantile or severe early-onset form and a juvenile or milder late-onset form. Affected individuals with early-onset manifest severe symptoms and have a mean age of death at 9.2 years. These individuals have died from strokes, severe opportunistic infections, bone marrow failure, complications of kidney failure, congestive heart failure, and unspecified lung disease. On the other hand, those with milder disease have survived into the fifth decade if symptomatically treated. However, severity and age of onset of symptoms do not invariably predict survival as a few of those with early-onset disease have survived into the third and forth decade.

    Resources

    Human Growth Foundation
    997 Glen Cove Avenue
    Suite 5
    Glen Head, NY 11545
    Tel: (516)671-4041
    Fax: (516)671-4055
    Tel: (800)451-6434
    Email: hgf1@hgfound.org
    Internet: http://www.hgfound.org/

    Little People of America, Inc.
    250 El Camino Real Suite 201
    Tustin, CA 92780
    Tel: (714)368-3689
    Fax: (714)368-3367
    Tel: (888)572-2001
    Email: info@lpaonline.org
    Internet: http://www.lpaonline.org/

    Coalition for Heritable Disorders of Connective Tissue (CHDCT)
    4301 Connecticut Avenue, NW Suite 404
    Washington, DC 20008
    Tel: (202)362-9599
    Fax: (202)966-8553
    Tel: (800)778-7171
    Email: chdct@pxe.org
    Internet: http://www.chdct2.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/

    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: 2/7/2012
    Copyright 2008, 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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