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congenital fibrosis of extraocular muscles type 1

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.

Synonyms

  • CFEOM1
  • Feom1 locus
  • KIF21A congenital fibrosis of extraocular muscles
  • blepharoptosis with absent eye movements
  • congenital fibrosis of extraocular muscles caused by mutation in KIF21A
  • fibrosis of extraocular muscles, congenital, 1
  • fibrosis of extraocular muscles, congenital, 3B
  • ophthalmoplegia, congenital
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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