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Diseases

Genetic and Rare Diseases Information Center (GARD)

Walker-Warburg syndrome


Other Names for this Disease
  • Hydrocephalus, agyria and retinal dysplasia
  • Hard syndrome
  • Hard +/- E syndrome
  • Warburg syndrome
  • Chemke syndrome
Related Diseases
  • Congenital disorder of glycosylation with developmental anomaly
  • Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
  • Congenital muscular dystrophy
  • Congenital muscular dystrophy due to dystroglycanopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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

References

  1. Jiri Vajsar and Harry Schachter. Walker-Warburg syndrome. Orphanet Journal of Rare Diseases. August 3, 2006; 1(29):http://www.ojrd.com/content/1/1/29. 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
Other Names for this Disease
  • Hydrocephalus, agyria and retinal dysplasia
  • Hard syndrome
  • Hard +/- E syndrome
  • Warburg syndrome
  • Chemke syndrome
Related Diseases
  • Congenital disorder of glycosylation with developmental anomaly
  • Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
  • Congenital muscular dystrophy
  • Congenital muscular dystrophy due to dystroglycanopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.