Isolated arrhinia
Synonyms: Isolated nose agenesis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
An extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated arrhinia | Isolated nose agenesis |
| fr | Arhinie isolée | Agénésie isolée du nez |
| de | Arrhinie, isolierte | Nasenagenesie, isolierte |
| es | Arrinia aislada | Agenesia nasal aislada |
| it | Arinia isolata | Agenesia del naso isolata |
| nl | Geïsoleerde arrhinie | Geïsoleerde agenesie van de neus |
| pt | Arrinia isolada | Agenesia nasal isolada |
| pl | Brak nosa | Agenezja nosa |
| cs | Arrhinie | Ageneze nosu |
| uk | Ізольована аринія | Ізольована агенезія носа |
| zh | 孤立型无鼻畸形 | 孤立性鼻发育不全 |
| tr | İzole arini | İzole burun agenezisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q30.1 | NTBT | attributed | validated |
| ICD-11 | LA70.0 | E | specific | validated |
| MONDO | 0015237 | E | validated | |
| MeSH | C537438 | E | validated | |
| UMLS | C0265740 | E | validated | |
| GARD | 364 | 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:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological 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 | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
HPO phenotypes
12 annotations · validated 2017-12-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0005273 | Absent nasal septal cartilage | |
| HP:0009935 | Aplasia/Hypoplasia of the nasal septum | |
| HP:0000625 | Eyelid coloboma | |
| HP:0002006 | Facial cleft | |
| HP:0000316 | Hypertelorism | |
| HP:0004646 | Hypoplasia of the nasal bone | |
| HP:0000568 | Microphthalmia | |
| HP:0008551 | Microtia | |
| HP:0004122 | Midline defect of the nose | |
| HP:0002098 | Respiratory distress | |
| HP:0000430 | Underdeveloped nasal alae | |
| Occasional (29-5%) | ||
| HP:0009927 | Aplasia of the nose | |
Annotation source: 27386828[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1134
- This record as JSON: /data/d/1134.json