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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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