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    Osteogenesis Imperfecta

    Important
    It is possible that the main title of the report Osteogenesis Imperfecta 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

    • Brittle Bone Disease
    • Ekman-Lobstein Disease
    • Lobstein Disease (Type I)
    • OI
    • Vrolik Disease (Type II)

    Disorder Subdivisions

    • Osteogenesis Imperfecta Type I
    • Osteogenesis Imperfecta Type II
    • Osteogenesis Imperfecta Type III
    • Osteogenesis Imperfecta Type IV

    General Discussion

    Osteogenesis Imperfecta (OI) is a group of rare disorders affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones), often without apparent cause. The specific symptoms and physical findings associated with OI vary greatly from case to case. The severity of OI also varies greatly, even among individuals of the same family. OI may be a mild disorder or may result in severe complications. Four main types of OI have been identified. OI type I is the most common and the mildest form of the disorder. OI type II is the most severe. In most cases, the various forms of osteogenesis imperfecta are inherited as autosomal dominant traits.

    Resources

    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

    Osteogenesis Imperfecta Foundation
    804 W. Diamond Ave, Suite 210
    Gaithersburg, MD 20878
    USA
    Tel: (301)947-0083
    Fax: (301)947-0456
    Tel: (800)981-2663
    Email: bonelink@oif.org
    Internet: http://www.oif.org

    NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
    Information Clearinghouse
    One AMS Circle
    Bethesda, MD 20892-3675
    USA
    Tel: (301)495-4484
    Fax: (301)718-6366
    Tel: (877)226-4267
    TDD: (301)565-2966
    Email: NIAMSinfo@mail.nih.gov
    Internet: http://www.niams.nih.gov/

    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/

    Canadian Osteogenesis Imperfecta Society
    208 Ramona Blvd
    Markham
    Ontario, L3P 2K8
    Canada
    Tel: 9052945340
    Email: rkhayes@ccat.on.ca
    Internet: http://www.oif.org

    Children's Brittle Bone Foundation
    7701 95th Street
    Pleasant Prairie, WI 53158
    Tel: (866)694-2223
    Fax: (262)947-0724
    Email: info@cbbf.org
    Internet: http://www.cbbf.org

    NIH/National Institute of Child Health and Human Development
    31 Center Dr
    Building 31, Room 2A32
    MSC2425
    Bethesda, MD 20892
    Fax: (866)760-5947
    Tel: (800)370-2943
    TDD: (888)320-6942
    Email: NICHDInformationResourceCenter@mail.nih.gov
    Internet: http://www.nichd.nih.gov/

    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

    Let Them Hear Foundation
    1900 University Avenue, Suite 101
    East Palo Alto, CA 94303
    Tel: (650)462-3174
    Fax: (650)462-3144
    Email: info@letthemhear.org
    Internet: http://www.letthemhear.org

    European Skeletal Dysplasia Network
    Institute of Genetic Medicine
    Newcastle University
    International Centre for Life
    Central Parkway
    Newcastle upon Tyne, NE1 3BZ
    United Kingdom
    Tel: 441612755642
    Fax: 441612755082
    Email: info@esdn.org
    Internet: http://www.esdn.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: 1/3/2007
    Copyright 1984, 1985, 1986, 1987, 1988, 1990, 1992, 1996, 1997, 1999, 2001, 2003, 2007 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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