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Congenital Fibrosis of the Extraocular Muscles

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Elizabeth C. Engle, MD, Professor of Neurology and Ophthalmology, Harvard Medical School and Children's Hospital Boston; Investigator, Howard Hughes Medical Institute, for assistance in the preparation of this report.

Synonyms of Congenital Fibrosis of the Extraocular Muscles

  • congenital fibrosis syndrome

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 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.

Organizations related to Congenital Fibrosis of the Extraocular Muscles

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