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Congenital fibrosis of extraocular muscles

Disease definition

A rare syndromic disorder with strabismus characterized by congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities, among others.

ORPHA:45358

Classification level: Disorder
  • Synonym(s):
    • FEOM
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Neonatal
  • ICD-10: H49.8
  • OMIM: 135700  600638  602078  609384  609428  609612
  • UMLS: C1302995
  • MeSH: -
  • GARD: 12590
  • MedDRA: -

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