ORPHA:1508
Coxoauricular syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coxoauricular syndrome | |
| fr | Syndrome coxo-auriculaire | |
| de | Coxo-aurikuläres Syndrom | |
| es | Síndrome coxo-auricular | |
| it | Sindrome coxoauricolare | |
| nl | Coxo-auriculair syndroom | |
| pt | Síndrome coxo-auricular | |
| pl | Zespół biodrowo-uszny | |
| cs | Koxoaurikulární syndrom | |
| uk | Коксоаурикулярний синдром | |
| zh | 髋耳综合征 | |
| tr | Koksoauriküler sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 122780 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | index | validated |
| MONDO | 0007392 | E | validated | |
| MeSH | C565148 | E | validated | |
| UMLS | C1852513 | E | validated | |
| GARD | 1558 | 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:93441Primary bone dysplasia with multiple joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 4 cases | Worldwide | Case(s) | Validated | 7282772[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7282772[PMID] |
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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002823 | Abnormality of femur morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000365 | Hearing impairment | |
| HP:0002827 | Hip dislocation | |
| HP:0002983 | Micromelia | |
| HP:0008551 | Microtia | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0004322 | Short stature | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1508
- This record as JSON: /data/d/1508.json