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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Jackson-Weiss syndrome


Other Names for this Disease
  • Craniosynostosis, midfacial hypoplasia, and foot abnormalities
  • JWS
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Overview


Jackson-Weiss syndrome (JWS) is a genetic disorder characterized by specific malformations of the head and facial area and abnormalities of the feet. The range and severity of symptoms and findings may be extremely variable, and findings may include craniosynostosis; unusually flat, underdeveloped midfacial regions (midfacial hypoplasia); abnormally broad great toes; and/or malformation or fusion of certain bones within the feet. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner; in some cases, it is not inherited but results from a new mutation that occurs randomly. The treatment of JWS is typically directed toward the specific symptoms that are apparent in each individual.[1]
Last updated: 5/14/2011

References

  1. Jackson-Weiss Syndrome. NORD. December 31, 2010; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Jackson-Weiss%20Syndrome. Accessed 5/14/2011.
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Please contact us with your questions about Jackson-Weiss syndrome. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Jackson-Weiss 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 Jackson-Weiss syndrome. Click on the link to view a sample search on this topic.