ORPHA:141091
Polyrrhinia
Synonyms: Double nose · Polyrhinia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, major congenital malformation characterized by complete duplication of the nose resulting in two fully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polyrrhinia | Double nose · Polyrhinia |
| fr | Polyrhinie | Nez double |
| de | Polyrhinie | Duplikation der Nase |
| es | Polirrinia | Nariz doble |
| it | Polirinia | Doppio naso |
| nl | Polyrhinie | Dubbele neus |
| pt | Polirrinia | |
| pl | Podwójny nos | Duplikacja nosa |
| cs | Polyrhinie | Dvojitý nos |
| uk | Поліринія | Подвійний ніс · Полірихія |
| zh | 多发性鼻炎 | 双鼻 |
| tr | Poliniri | Polirinya · Çift burun |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q30.8 | NTBT | inclusion | validated |
| ICD-11 | LA70 | NTBT | index | validated |
| MONDO | 0015388 | E | validated | |
| UMLS | C4274730 | E | validated | |
| GARD | 19945 | 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:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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
9 annotations · validated 2021-03-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010938 | Abnormal external nose morphology | |
| HP:0010939 | Abnormal nasal bone morphology | |
| HP:0009934 | Supernumerary naris | |
| Occasional (29-5%) | ||
| HP:0010951 | Abnormal third ventricle morphology | |
| HP:0002056 | Abnormality of the glabella | |
| HP:0002693 | Abnormality of the skull base | |
| HP:0000316 | Hypertelorism | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000202 | Orofacial cleft | |
Annotation source: 29184738[PMID]_9725533[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141091
- This record as JSON: /data/d/141091.json