MeSH Browser

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

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Nervous System Malformations [C10.500]
  - Malformations of Cortical Development [C10.500.507]
    - Malformations of Cortical Development, Group II [C10.500.507.450]
      - Lissencephaly [C10.500.507.450.499]
        
        Cobblestone Lissencephaly [C10.500.507.450.499.249]
        
        Walker-Warburg Syndrome [C10.500.507.450.499.249.500]

Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Nervous System Malformations [C16.131.666]
    - Malformations of Cortical Development [C16.131.666.507]
      - Malformations of Cortical Development, Group II [C16.131.666.507.450]
        
        Lissencephaly [C16.131.666.507.450.499]
        
        Cobblestone Lissencephaly [C16.131.666.507.450.499.249]
        
        Walker-Warburg Syndrome [C16.131.666.507.450.499.249.500]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Muscular Dystrophies [C16.320.577]

Walker-Warburg Syndrome Preferred

Concept UI: M0542866
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.
Terms: Walker-Warburg Syndrome Preferred Term
Term UI T764487
Date01/21/2010
LexicalTag EPO
ThesaurusID; Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
Term UI T800818
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Chemke Syndrome
Term UI T764479
Date01/21/2010
LexicalTag EPO
ThesaurusID; COD-MD Syndrome
Term UI T838792
Date03/18/2013
LexicalTag ABX
ThesaurusID; HARD Syndrome
Term UI T826321
Date07/17/2012
LexicalTag ACX
ThesaurusID OMIM (2013); Hydrocephalus, Agyria, And Retinal Dysplasia
Term UI T800817
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Pagon Syndrome
Term UI T800820
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Warburg Syndrome
Term UI T764480
Date01/21/2010
LexicalTag EPO
ThesaurusID

Fukuyama Type Congenital Muscular Dystrophy Related

Muscle-Eye-Brain Disease Related

alpha-Dystroglycanopathies Broader

Muscular Dystrophy, Limb-Girdle, Type 2K Related

Muscle-Eye-Brain Disease, POMT1-Related Related

Walker-Warburg Syndrome MeSH Descriptor Data 2025