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Melorheostosis

MONDO:0007970

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

Also known as: melorheostosis, isolated, somatic mosaic, Mel, melorheostosis, isolated

3 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Musculoskeletal system disorder (207) Hereditary disease (176) Bone disorder (51) Human disease (14) Osteopetrosis (6) Bone remodeling disease (5) Skeletal system disorder (4) Disease of genetic or genomic mechanism (2) Osteosclerosis (1)

Trials to join now! 1 Not yet finished but already full! 1 Completed 1

Rare bone disease under the microscope: what causes melorheostosis?

Knowledge-focused Recruiting now

This study follows adults with melorheostosis, a rare disease that causes bone thickening, pain, and joint problems. Researchers will track how the disease progresses over time, collect genetic samples from patients and their relatives, and look for biomarkers. The goal is to bet…

Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) • Aim: Knowledge-focused

Last updated Jul 24, 2026 00:00 UTC