hereditary multiple osteochondromas
Findings
No curated finding names hereditary multiple osteochondromas yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A bone neoplasm characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.
Definition from the Mondo Disease Ontology (MONDO:0005508), read 2026-09-29. CC BY 4.0.
Features
56 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.
- OsteochondromaHPOHP:0030431
- Obligate (100% of cases)
- Abnormal bone structureHPOHP:0003330
- Frequent (30% to 79% of cases)
- Abnormal cartilage morphologyHPOHP:0002763
- Frequent (30% to 79% of cases)
- Abnormal femur morphologyHPOHP:0002823
- Frequent (30% to 79% of cases)
- Abnormal lower limb bone morphologyHPOHP:0040069
- Frequent (30% to 79% of cases)
- Abnormality of the kneeHPOHP:0002815
- Frequent (30% to 79% of cases)
- Deformed forearm bonesHPOHP:0003959
- Frequent (30% to 79% of cases)
- Functional motor deficitHPOHP:0004302
- Frequent (30% to 79% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Frequent (30% to 79% of cases)
- PainHPOHP:0012531
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Abnormal fibula morphologyHPOHP:0002991
- Occasional (5% to 29% of cases)
Show the remaining 44
- Abnormal hand morphologyHPOHP:0005922
- Occasional (5% to 29% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Occasional (5% to 29% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Occasional (5% to 29% of cases)
- ArthritisHPOHP:0001369
- Occasional (5% to 29% of cases)
- Asymmetric growthHPOHP:0100555
- Occasional (5% to 29% of cases)
- Bowing of the long bonesHPOHP:0006487
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
5 names
Resolves to: hereditary multiple osteochondromas
- Also called
- Bessel-Hagen diseaseexostoses, multiplemultiple cartilaginous exostosesosteochondromatosis syndromeosteochondromatosis syndrome (disorder) [ambiguous]