congenital fibrosis of the extraocular muscles

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

Also Known As:

Cfeom; Congenital External Ophthalmoplegia; General Fibrosis Syndrome

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Paralysis: 14164
    - Ophthalmoplegia: 867
      - congenital fibrosis of the extraocular muscles: 38
- Cranial Nerve Diseases: 554
  - Ocular Motility Disorders: 514
    - Ophthalmoplegia: 867
      - congenital fibrosis of the extraocular muscles: 38
    - Oculomotor Nerve Diseases: 222
      - Congenital Cranial Dysinnervation Disorders: 4
        congenital fibrosis of the extraocular muscles: 38
- Nervous System Malformations: 35
  - Congenital Cranial Dysinnervation Disorders: 4
    - congenital fibrosis of the extraocular muscles: 38
Eye Diseases: 3522
- Ocular Motility Disorders: 514
  - Ophthalmoplegia: 867
    - congenital fibrosis of the extraocular muscles: 38
  - Oculomotor Nerve Diseases: 222
    - Congenital Cranial Dysinnervation Disorders: 4
      - congenital fibrosis of the extraocular muscles: 38
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Nervous System Malformations: 35
    - Congenital Cranial Dysinnervation Disorders: 4
      - congenital fibrosis of the extraocular muscles: 38
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Paralysis: 14164
      - Ophthalmoplegia: 867
        congenital fibrosis of the extraocular muscles: 38

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