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Walker-Warburg syndrome

Other Names for this Disease
  • Cerebroocular dysgenesis
  • Cerebroocular dysplasia muscular dystrophy syndrome
  • Chemke syndrome
  • COD-MD syndrome
  • Hard +/- E syndrome
More Names
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Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. Signs and symptoms are typically present at birth and include hypotonia, muscle weakness, developmental delay, intellectual disability and occasional seizures. It is also associated with lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities, and other abnormalities. Most children do not survive beyond the age of three years. It may be caused by mutations in any of several genes including the POMT1, POMT2 and FKRP genes, although in many individuals the genetic cause is unknown. WWS is inherited in an autosomal recessive manner. No specific treatment is available; management is generally supportive and preventive.[1]
Last updated: 3/23/2011


  1. Jiri Vajsar and Harry Schachter. Walker-Warburg syndrome. Orphanet Journal of Rare Diseases. August 3, 2006; 1(29): Accessed 3/22/2011.
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Basic Information

  • Genetics Home Reference contains information on Walker-Warburg syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Walker-Warburg syndrome. Click on the link to view a sample search on this topic.

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