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GTR Home > Conditions/Phenotypes > Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement

Synonyms
Congenital Fibrosis of the Extraocular Muscles 3A; FEOM3 LOCUS; TUBB3-Related Congenital Fibrosis of the Extraocular Muscles

Summary

Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (135700). CFEOM2 (602078) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008). Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3 The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (135700), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (609384), which maps to chromosome 13q. [from OMIM]

Available tests

29 tests are in the database for this condition.

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Clinical tests (28 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: CDCBM, CDCBM1, CFEOM3, CFEOM3A, FEOM3, TUBB4, beta-4, TUBB3
    Summary: tubulin beta 3 class III

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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