dysspondyloenchondromatosis
Findings
No curated finding names dysspondyloenchondromatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.
Definition from the Mondo Disease Ontology (MONDO:0019412), read 2026-09-29. CC BY 4.0.
Features
23 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.
- Enlarged jointsHPOHP:0003037
- Very frequent (80% to 99% of cases)
- ExostosesHPOHP:0100777
- Very frequent (80% to 99% of cases)
- Generalized joint hypermobilityHPOHP:0002761
- Very frequent (80% to 99% of cases)
- Joint dislocationHPOHP:0001373
- Very frequent (80% to 99% of cases)
- KyphoscoliosisHPOHP:0002751
- Very frequent (80% to 99% of cases)
- Lower limb asymmetryHPOHP:0100559
- Very frequent (80% to 99% of cases)
- Multiple enchondromatosisHPOHP:0005701
- Very frequent (80% to 99% of cases)
- Pretibial blisteringHPOHP:0012221
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Skin erosionHPOHP:0200041
- Very frequent (80% to 99% of cases)
- Spondylometaphyseal dysplasiaHPOHP:0002657
- Very frequent (80% to 99% of cases)
Show the remaining 11
- Vertebral segmentation defectHPOHP:0003422
- Very frequent (80% to 99% of cases)
- Abnormal fibula morphologyHPOHP:0002991
- Frequent (30% to 79% of cases)
- Abnormal ulnar metaphysis morphologyHPOHP:0004039
- Frequent (30% to 79% of cases)
- AnisospondylyHPOHP:0002879
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- Genu valgumHPOHP:0002857
- Frequent (30% to 79% of cases)
Genes
1 gene
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.
- COL2A1HGNC:2200
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of