Melorheostosis is thought to be caused by a mutation of the LEMD3gene. The disorder can be detected by radiograph due to thickening of bony cortex resembling "dripping candle wax". It is included on the spectrum of developmental bone dysplasias including pycnodysostosis and osteopoikilosis. The disorder tends to be unilateral and monoostotic, with only one limb typically involved. Cases with involvement of multiple limbs, ribs, and bones in the spine have also been reported. There are no reported cases of involvement of skull or facial bones. Melorheostosis can be associated with pain, physical deformity, skin and circulation problems, contractures, and functional limitation. It is also associated with a benign inner eardysplasia known as osteosclerosis.
The disorder is progressive, with the ultimate severity of symptoms often depending on age of onset. In severe cases amputation has been performed when conservative measures such as physical therapy and regional anesthetics have been ineffective.