Congenital fibrosis of extraocular muscles
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Congenital fibrosis of extraocular muscles?
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