ORPHA:85198
Dysspondyloenchondromatosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysspondyloenchondromatosis | |
| fr | Dysspondyloenchondromatose | |
| de | Dysspondyloenchondromatose | |
| es | Disespondiloencondromatosis | |
| it | Dis-spondiloencondromatosi | |
| nl | Dysspondylo-enchondromatose | |
| pt | Disespondiloencondromatose | |
| pl | Dysspondyloenchondromatoza | |
| cs | Dysspondyloenchondromatóza | |
| uk | Диспондилоенхондроматоз | |
| zh | 脊柱内生软骨瘤病 | |
| tr | Disspondiloenkondromatoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q78.4 | NTBT | attributed | validated |
| ICD-11 | LD24.2Y | NTBT | index | validated |
| MONDO | 0019412 | E | validated | |
| UMLS | C4302548 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 22570642[PMID]_26250472[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 24357493[PMID]_26250472[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24357493[PMID]_26250472[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003037 | Enlarged joints | |
| HP:0100777 | Exostoses | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0001373 | Joint dislocation | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0005701 | Multiple enchondromatosis | |
| HP:0012221 | Pretibial blistering | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0200041 | Skin erosion | |
| HP:0002657 | Spondylometaphyseal dysplasia | |
| HP:0003422 | Vertebral segmentation defect | |
| Frequent (79-30%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0004039 | Abnormality of ulnar metaphysis | |
| HP:0002879 | Anisospondyly | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002857 | Genu valgum | |
| HP:0005868 | Metaphyseal enchondromatosis | |
| HP:0002758 | Osteoarthritis | |
| HP:0000926 | Platyspondyly | |
| Occasional (29-5%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24357493[PMID]_26250472[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85198
- This record as JSON: /data/d/85198.json