Auriculoosteodysplasia
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- historical
A rare primary bone dysplasia with multiple joint dislocations characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and short stature. Dysplasia of the radiocapitellar joint has been reported in all patients. There have been no further descriptions in the literature since 1967.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Auriculoosteodysplasia | |
| fr | Auriculo-ostéodysplasie | |
| de | Aurikulo-Osteo-Dysplasie | |
| es | Aurículo-osteo-displasia | |
| it | Displasia osteoauricolare | |
| nl | Auriculo-osteodysplasie | |
| pt | Auriculo-osteodisplasia | |
| pl | Dysplazja uszno-kostna | |
| cs | Aurikuloosteodysplázie | |
| uk | Аурикулоостеодисплазія | |
| zh | 耳骨发育不全 | |
| tr | Aurikuloosteodisplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 109000 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | index | validated |
| MONDO | 0007177 | E | validated | |
| MeSH | C538271 | E | validated | |
| UMLS | C1862381 | E | validated | |
| GARD | 8663 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 6065451[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6065451[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.
HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000889 | Abnormality of the clavicle | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0009907 | Attached earlobe | |
| HP:0003042 | Elbow dislocation | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0001385 | Hip dysplasia | |
| Occasional (29-5%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0000400 | Macrotia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/114
- This record as JSON: /data/d/114.json