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Genetic and Rare Diseases Information Center (GARD)

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Melorheostosis


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Overview

Melorheostosis is a progressive skeletal disorder that causes bones to thicken.[1] This condition can also affect joints, soft tissue, and skin. Melorheostosis can cause pain, stiffness, limited movement, and limb deformities, although some individuals do not have any symptoms. Mutations in the LEMD3 gene have been found to cause melorheostosis.[2] Treatment options include surgery, physical and occupational therapy, hydrotherapy, and medications.[1]
Last updated: 11/3/2009

References

  1. Melorheostosis Association Brochure. Melorheostosis Association Web site. http://www.melorheostosis.com/default_files/Page329.htm. Accessed 11/3/2009.
  2. Azouz ME, Greenspan A. Orphanet Encyclopedia. February 2005; http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf. Accessed 11/3/2009.
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Basic Information

  • 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 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 Melorheostosis. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.