multiple epiphyseal dysplasia due to collagen 9 anomaly
Findings
No curated finding names multiple epiphyseal dysplasia due to collagen 9 anomaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0015627), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Arthralgia of the hipHPOHP:0003365
- Frequent (30% to 79% of cases)
- Knee painHPOHP:0030839
- Frequent (30% to 79% of cases)
- Limb undergrowthHPOHP:0009826
- Frequent (30% to 79% of cases)
- Postexertional symptom exacerbationHPOHP:0030973
- Frequent (30% to 79% of cases)
- Reduced arm spanHPOHP:0012770
- Frequent (30% to 79% of cases)
- Abnormal elbow epiphysis morphology
Show the remaining 12
- Bilateral coxa valgaHPOHP:0010665
- Occasional (5% to 29% of cases)
- Coxa varaHPOHP:0002812
- Occasional (5% to 29% of cases)
- Fragmented metacarpal epiphysisHPOHP:0009189
- Occasional (5% to 29% of cases)
- Genu valgumHPOHP:0002857
- Occasional (5% to 29% of cases)
- Genu varumHPOHP:0002970
- Occasional (5% to 29% of cases)
- OsteoarthritisHPOHP:0002758
- Occasional (5% to 29% of cases)
Genes
3 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.