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Congenital Fibrosis of the Extraocular Muscles MeSH Supplementary Concept Data 2022


MeSH Supplementary
Congenital Fibrosis of the Extraocular Muscles
Unique ID
C580012
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C580012
Entry Term(s)
Cfeom
Congenital External Ophthalmoplegia
Congenital Fibrosis Syndrome
Congenital Fibrosis of Extraocular Muscles
General Fibrosis Syndrome
Registry Number
0
Previous Indexing
*EYE DISEASES, HEREDITARY (2013-2016)
Heading Mapped to
*Fibrosis
*Ophthalmoplegia
Frequency
41
Note
Includes several inherited STRABISMUS syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral BLEPHAROPTOSIS and ophthalmoplegia with the eyes fixed about 20 to 30 degrees below the horizontal midline. Horizontal extraocular muscles may also be involved. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as CFEOM1, which is caused by mutations in the KIF21A (a KINESIN) gene. OMIM: 135700
Date of Entry
2013/10/24
Revision Date
2019/03/22
Congenital Fibrosis of the Extraocular Muscles Preferred
Congenital External Ophthalmoplegia Related
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