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A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.
Features include very common findings: Hemangioma, Multiple enchondromatosis, Abnormal metaphysis morphology, and Abnormal cartilage morphology and others; and common findings: Joint stiffness, Subcutaneous nodule, and Bone pain. 27 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 6 | Abnormal long bone morphology, Osteolysis, Joint stiffness |
Phenotype severity distribution: 7 very common features, 3 common features.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
2 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
23 publications have been identified in PubMed for Ollier disease. Research spans Case Report / Case Series (65%), Basic Science / Preclinical (9%), and Epidemiology / Natural History (9%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 15 | 65% |
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 12:31 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Ollier disease
Skin |
2 |
Subcutaneous nodule, Skin ulcer |
Arms and legs | 2 | Lower limb asymmetry, Upper limb asymmetry |
Head and neck | 1 | Facial asymmetry |
Neoplasm | 1 | Neoplasm |
Brain and nerves | 1 | Cranial nerve paralysis |
Laboratory research |
2 |
9% |
Disease patterns and progression | 2 | 9% |
Other research | 1 | 4% |
Research summaries | 1 | 4% |
Clinical study results | 1 | 4% |
New treatment approaches | 1 | 4% |
Colello MJ (2026). [PMID: 41992553](https://pubmed.ncbi.nlm.nih.gov/41992553/). *Am J Med Genet A*. [Epidemiology / Natural History]
Luciano J (2026). [PMID: 41943822](https://pubmed.ncbi.nlm.nih.gov/41943822/). *JBMR Plus*. [Case Report / Case Series]
Vail M (2026). [PMID: 41769597](https://pubmed.ncbi.nlm.nih.gov/41769597/). *Cureus*. [Case Report / Case Series]
Varela AF (2025). [PMID: 40092240](https://pubmed.ncbi.nlm.nih.gov/40092240/). *Journal of orthopaedic case reports*. [Case Report / Case Series]
Calder P (2025). [PMID: 42147768](https://pubmed.ncbi.nlm.nih.gov/42147768/). *Strategies Trauma Limb Reconstr*. [Other]
Zhao Y (2025). [PMID: 38942037](https://pubmed.ncbi.nlm.nih.gov/38942037/). *Klinische Padiatrie*. [Case Report / Case Series]
Agosti E (2025). [PMID: 38847534](https://pubmed.ncbi.nlm.nih.gov/38847534/). *Operative neurosurgery (Hagerstown, Md.)*. [Case Report / Case Series]
Michaeli O (2025). [PMID: 39601780](https://pubmed.ncbi.nlm.nih.gov/39601780/). *Clinical cancer research : an official journal of the American Association for Cancer Research*. [Review / Meta-Analysis]
Önner H (2025). [PMID: 40829138](https://pubmed.ncbi.nlm.nih.gov/40829138/). *Clinical nuclear medicine*. [Case Report / Case Series]
Carolino DK (2025). [PMID: 40415195](https://pubmed.ncbi.nlm.nih.gov/40415195/). *The journal of hand surgery Asian-Pacific volume*. [Case Report / Case Series]
AI-curated news mentioning Ollier disease
Updated Mar 16, 2026
A recent study explores the coexistence of Ollier disease and primary hyperparathyroidism, suggesting a potential expansion of the clinical spectrum of Ollier disease. This research may provide new insights into the genetic and phenotypic variations associated with these conditions.