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Diseases

Genetic and Rare Diseases Information Center (GARD)

Melorheostosis


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Overview

Melorheostosis is a rare skeletal abnormality. It causes a lesion of bone to become overly thick and dense. The skin and soft tissues surrounding the bone lesion also harden. Melorheostosis tends to be limited to one extremity.[1] Melorheostosis can cause pain, limit range of movement (if a joint is involved), or stunt the growth of an affected extremity.[1]  Melorheostosis is thought to occur during fetal development, however signs and symptoms tend not to present until later childhood or early adulthood. Melorheostosis is a sporadic condition, and is not inherited.[1]
Last updated: 6/16/2015

References

  1. Gagliardi GG, Mahan KT. Melorheostosis: a literature review and case report with surgical considerations. J Foot Ankle Surg. 2010 Jan-Feb; 49(1):80-5. Accessed 6/16/2015.
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Basic Information

  • 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 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.