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Congenital Fibrosis of the Extraocular Muscles

National Organization for Rare Disorders, Inc.

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.

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