ORPHA:66630
Congenital pseudoarthrosis of the clavicle
Synonyms: Congenital pseudarthrosis of the clavicle
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare dysostosis of genetic origin characterized by a painless mass over the clavicle which is due to the failure of the union process of the ossification nuclei of the clavicle.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital pseudoarthrosis of the clavicle | Congenital pseudarthrosis of the clavicle |
| fr | Pseudoarthrose congénitale de la clavicule | Pseudarthrose congénitale de la clavicule |
| de | Pseudoarthrose der Klavikula, kongenitale | Klavikulapseudarthrose, kongenitale |
| es | Pseudoartrosis congénita de clavícula | |
| it | Pseudoartrosi congenita della clavicola | |
| nl | Congenitale pseudoartrose van clavicula | Congenitale pseudartrose van clavicula · Congenitale pseudoartrose van sleutelbeen |
| pt | Pseudoartrose da clavícula congénita | |
| pl | Wrodzone stawy rzekome obojczyków | = en |
| cs | Vrozená pseudoartróza klavikuly | = en |
| uk | Вроджений псевдоартроз ключиці | Вроджений псевдоартроз ключиці |
| zh | 先天性锁骨假性关节病 | 先天性锁骨假关节 |
| tr | Klavikulanın doğumsal psödoartrozu | Klavikulanın Doğumsal psödartrozu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118980 | E | validated | |
| ICD-10 | Q74.0 | NTBT | inclusion | validated |
| ICD-11 | LB72.Y | NTBT | index | validated |
| MONDO | 0007330 | E | validated | |
| MeSH | C562548 | E | validated | |
| UMLS | C0265565 | 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 (2):
- ORPHA:364559Dysostosis
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:404568Dysostosis of genetic origin
rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | 1-9 / 100 000 | 5.7 / 100 000 | Worldwide | Value and class | 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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0006585 | Congenital pseudoarthrosis of the clavicle | |
| HP:0002758 | Osteoarthritis | |
| Frequent (79-30%) | ||
| HP:0001651 | Dextrocardia | |
| HP:0001696 | Situs inversus totalis | |
| Occasional (29-5%) | ||
| HP:0000891 | Cervical ribs | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/66630
- This record as JSON: /data/d/66630.json