Synonyms: MEB syndrome | Muscle-eye-brain syndrome | Santavuori congenital muscular dystrophy
A rare congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy severe muscular hypotonia severe intellectual disability and typical brain and eye malformations including pachygyria polymicrogyria agyria brainstem and cerebellar structural anomalies severe myopia glaucoma optic nerve and retinal hypoplasia. A broad clinical spectrum is observed with variable involvement of each organ system.
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 March 2024
Newly diagnosed with
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