National Organization for Rare Disorders, Inc.


It is possible that the main title of the report Melorheostosis is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Melorheostosis is a rare and progressive disease characterized by thickening (hyperostosis) of the outer layers of bone (cortical bone). Melorheostosis affects both bone and soft tissue growth and development. While the disorder is benign, it often results in severe functional limitation; extensive pain; malformed or immobilized muscles, tendons or ligaments; and limb, hand or foot deformity.


Signs and symptoms of melorheostosis include irregular bone growth, including cortical thickening and "dripping candle wax" appearance; unequal length of limbs; joint swelling and fusion; soft tissue abnormalities, including tendon and ligament shortening, absent or abnormal muscles, calcification, and contractures resulting in malformed or immobilized joints; range of motion limitations; pain and stiffness; sensitivity to cold; hyper-pigmentation of skin; and vascular abnormalities.

Melorheostosis usually is found in the arms and hands (upper quadrant) or legs and feet (lower quadrant). It may be found in either or both quadrants. The disease can also affect the pelvis, hips, sternum, ribs and, more rarely, the spine and skull.


The cause of melorheostosis is currently unknown. It is believed that the LEMD3 gene which is also called as MAN1 , which is critical to bone formation, may play a role in melorheostosis if the patient also has osteopoikilosis. However, this is not the whole story since the LEMD3 gene does not appear to be implicated in melorheostosis when osteopoikilosis is not present.

Researchers are conducting further mutational analysis and looking at the role of certain regulator proteins in trying to discern a cause.

Affected Populations

Both sexes are affected. The age of diagnosis is typically based on severity of onset and symptoms.

Standard Therapies


X-rays are the preferred diagnostic tool. They often reveal a pattern of thickened bone (sclerotic bone lesions) that resemble dripping candle wax.


Treatments are limited at the present time. No treatment option has been found to be fully effective, and what may be helpful to one person may be ineffective or even detrimental to another. Treatment options include surgery, physical and occupational therapy, hydrotherapy, and medications to alter the bone remodeling process.

Pain management may be challenging. Medications prescribed for pain may include NSAIDs, steroids, narcotics and, occasionally, diphosphonates or biphosphonates. These medications are sometimes helpful in the early stages of the chronic progression of the disease but may be less so for the severely affected.

Investigational Therapies

Information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010


For information about clinical trials sponsored by private sources, contact:



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What is Melorheostosis? Melorheostosis Association. ©2001-2006. 2pp.

Melorheostosis. University of Washington MSK Residents Projects. Posted: 8/23/03. 3pp.


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