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    Congenital Fibrosis of the Extraocular Muscles

    Important
    It is possible that the main title of the report Congenital Fibrosis of the Extraocular Muscles 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

    • congenital fibrosis syndrome

    Disorder Subdivisions

    • congenital fibrosis of the extraocular muscles 2 (CFEOM 2)
    • congenital fibrosis of the extraocular muscles 3 (CFEOM 3)
    • Tukel syndrome
    • congenital fibrosis of the extraocular muscles 1 (CFEOM 1)

    General Discussion

    Congenital fibrosis of the extraocular muscles (CFEOM) includes at least five rare genetic eye movement disorders present at birth that are characterized by incomitant strabismus. Specifically, there is an inability to move the eyes in certain directions (opthalmoplegia), droopy eyelids (ptosis) and eyes that are fixed in an abnormal position. The oculomotor nucleus and nerve (cranial nerve III) and the muscles it serves and, in some cases the trochlear nucleus and nerve (cranial nerve IV) and/or the abducens nucleus and nerve (cranial nerve VI) and the muscles they serve are affected.

    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

    Prevent Blindness America
    211 West Wacker Drive
    Suite 1700
    Chicago, IL 60606
    Tel: (312)363-6001
    Fax: (312)363-6052
    Tel: (800)331-2020
    Email: info@preventblindness.org
    Internet: http://www.preventblindness.org

    NIH/National Eye Institute
    31 Center Dr
    MSC 2510
    Bethesda, MD 20892-2510
    United States
    Tel: (301)496-5248
    Fax: (301)402-1065
    Email: 2020@nei.nih.gov
    Internet: http://www.nei.nih.gov/

    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/

    Engle Laboratory at Children's Hospital Boston
    CLS 14076
    300 Longwood Ave
    Boston, MA 02115
    Tel: (617)919-2168
    Fax: (617)919-2769
    Email: candrews@enders.tch.harvard.edu
    Internet: http://www.childrenshospital.org/research/engle/

    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: 3/9/2013
    Copyright 2000, 2010, 2013 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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