Congenital Fibrosis of the Extraocular Muscles

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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.

Disorder Subdivisions

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

General Discussion

Congenital fibrosis of the extraocular muscles (CFEOM) includes at least four rare genetic eye movement disorders present at birth that are characterized by 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 or the trochlear nucleus and nerve (cranial nerve IV) and the muscles it serves 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: (416) 597-2229
Fax: (416) 597-8494
Tel: (800) 665-3223
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
Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
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, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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:  8/5/2010
Copyright  2000, 2010 National Organization for Rare Disorders, Inc.

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