A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.

Synonyms:

Muscle-eye-brain syndrome

Santavuori congenital muscular dystrophy

MEB syndrome

This is just here as a test because I lose it

Term information

expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588
hasDbXref
  • OMIM:613153
  • UMLS:C0457133
  • ICD-10:G71.0
  • OMIM:613150
  • OMIM:615350
  • OMIM:253800
  • OMIM:253280
  • OMIM:236670
  • OMIM:615181
  • OMIM:613154
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409944
  • http://www.orpha.net/ORDO/Orphanet_409945
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409930
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409981
notation
  • ORPHA:588
part of
  • http://www.orpha.net/ORDO/Orphanet_371235
  • http://www.orpha.net/ORDO/Orphanet_209033
  • http://www.orpha.net/ORDO/Orphanet_209024
  • http://www.orpha.net/ORDO/Orphanet_98638
  • http://www.orpha.net/ORDO/Orphanet_207119
  • http://www.orpha.net/ORDO/Orphanet_207122
  • http://www.orpha.net/ORDO/Orphanet_352687
  • http://www.orpha.net/ORDO/Orphanet_98683
  • http://www.orpha.net/ORDO/Orphanet_98644
  • http://www.orpha.net/ORDO/Orphanet_309469
  • http://www.orpha.net/ORDO/Orphanet_522520
  • http://www.orpha.net/ORDO/Orphanet_371071
present in
  • http://www.orpha.net/ORDO/Orphanet_409991