melorheostosis
MONDO:0007970Mondo
Findings
No curated finding names melorheostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007970), read 2026-09-29. CC BY 4.0.
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the skeletal systemHPOHP:0000924
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- Cranial nerve paralysisHPOHP:0006824
- Very frequent (80% to 99% of cases)
- Ectopic ossification in muscle tissueHPOHP:0011987
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- HyperostosisHPOHP:0100774
- Very frequent (80% to 99% of cases)
- Increased bone mineral densityHPOHP:0011001
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- LymphedemaHPOHP:0001004
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
Show the remaining 5
- Lower limb asymmetryHPOHP:0100559
- Frequent (30% to 79% of cases)
- Upper limb asymmetryHPOHP:0100560
- Frequent (30% to 79% of cases)
- ArthritisHPOHP:0001369
- Occasional (5% to 29% of cases)
- Atypical scarring of skinHPOHP:0000987
- Occasional (5% to 29% of cases)
- Peripheral arteriovenous fistulaHPOHP:0100784
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: melorheostosis
- Also called
- melorheostosis, isolated, somatic mosaic