MeSH Browser

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; General Fibrosis Syndrome
Previous Indexing: *EYE DISEASES, HEREDITARY (2013-2016); *FIBROSIS (2017-2022)
Heading Mapped to: *Ophthalmoplegia; *Congenital Cranial Dysinnervation Disorders
Frequency: 43
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: 2022/11/02

congenital fibrosis of the extraocular muscles MeSH Supplementary Concept Data 2024