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Walker-Warburg Syndrome MeSH Descriptor Data 2023


MeSH Heading
Walker-Warburg Syndrome
Tree Number(s)
C10.500.507.450.499.249.500
C11.270.881
C16.131.666.507.450.499.249.500
C16.320.577.750
Unique ID
D058494
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D058494
Scope Note
Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.
Entry Term(s)
COD-MD Syndrome
Cerebromuscular Dystrophy, Fukuyama Type
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
Chemke Syndrome
Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1
Fukuyama CMD
Fukuyama Congenital Muscular Dystrophy
Fukuyama Muscular Dystrophy
Fukuyama Syndrome
Fukuyama Type Congenital Muscular Dystrophy
HARD Syndrome
Hydrocephalus, Agyria, And Retinal Dysplasia
LGMD2K
MDDGA1
MEB (Muscle-Eye-Brain) Syndrome
Muscle Eye Brain Disease
Muscle-Eye-Brain Disease
Muscle-Eye-Brain Disease, POMT1-Related
Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A
Muscular Dystrophy, Congenital, Fukuyama Type
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation
Muscular Dystrophy, Limb-Girdle, Type 2K
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Pagon Syndrome
Walker-Warburg Syndrome, Fktn-Related
Warburg Syndrome
alpha-Dystroglycanopathies
Previous Indexing
Cobblestone Lissencephaly (2007-2010)
Muscular Dystrophies/congenital (1979-2010)
See Also
Dystroglycans
Public MeSH Note
2011
History Note
2011
Date Established
2011/01/01
Date of Entry
2010/06/25
Revision Date
2021/06/30
Walker-Warburg Syndrome Preferred
Muscular Dystrophy, Limb-Girdle, Type 2K Related
Fukuyama Type Congenital Muscular Dystrophy Related
Muscle-Eye-Brain Disease Related
Muscle-Eye-Brain Disease, POMT1-Related Related
alpha-Dystroglycanopathies Broader
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