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Start free with EleplanMuscle-eye-brain disease
ORPHA:588Malformation syndrome
Also called MEB syndrome · Muscle-eye-brain syndrome · Santavuori congenital muscular dystrophy
What it is
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.
Key facts
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
13These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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