Genetic and Rare Diseases Information Center (GARD)



Melorheostosis
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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]

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

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