Diseases

Walker-Warburg Syndrome

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

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Classification

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See Also

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Synonyms

56 entry terms
  • COD-MD Syndrome
  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
  • Chemke Syndrome
  • HARD Syndrome
  • Hydrocephalus, Agyria, And Retinal Dysplasia
  • Pagon Syndrome
  • Warburg Syndrome
  • COD MD Syndrome
  • COD-MD Syndromes
  • Cerebroocular Dysplasia Muscular Dystrophy Syndrome
  • HARD Syndromes
  • Pagon Syndromes
  • Syndrome, COD-MD
  • Syndrome, Chemke
  • Syndrome, HARD
  • Syndrome, Pagon
  • Syndrome, Walker-Warburg
  • Syndrome, Warburg
  • Walker Warburg Syndrome
  • Cerebromuscular Dystrophy, Fukuyama Type
  • 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
  • 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
  • Walker-Warburg Syndrome, Fktn-Related
  • alpha-Dystroglycanopathies
  • CMD, Fukuyama
  • Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1
  • Disease, POMT1-Related Muscle-Eye-Brain
  • Dystrophy, Fukuyama Muscular
  • Fktn-Related Walker-Warburg Syndrome
  • Fktn-Related Walker-Warburg Syndromes
  • Muscle Eye Brain Disease, POMT1 Related
  • Muscle-Eye-Brain Diseases
  • Muscle-Eye-Brain Diseases, POMT1-Related
  • Muscular Dystrophy, Fukuyama
  • POMT1-Related Muscle-Eye-Brain Disease
  • POMT1-Related Muscle-Eye-Brain Diseases
  • Syndrome, Fktn-Related Walker-Warburg
  • Syndrome, Fukuyama
  • Walker Warburg Syndrome, Fktn Related
  • alpha Dystroglycanopathies

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2011

MeSH Record

Previous Indexing

  • Cobblestone Lissencephaly (2007-2010)
  • Muscular Dystrophies/congenital (1979-2010)

MeSH Hierarchy

Tree Numbers

AMA Style

References

  1. National Library of Medicine. Walker-Warburg Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D058494. http://id.nlm.nih.gov/mesh/2026/D058494
  2. Walker-Warburg Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Walker%E2%80%93Warburg_syndrome
  3. Walker-Warburg Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1629483