Isolated congenital nasal pyriform aperture stenosis
Synonyms: Isolated apertura pyriformis stenosis · Isolated nasal pyriform aperture hypoplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare otorhinolaryngological malformation characterized by narrowing of the pyriform aperture (i. e. < 8 to 10 mm in a full-term infant) due to an overgrowth of the nasal process of the maxilla, resulting in potentially lethal nasal airway obstruction in the newborn. Depending on the degree of obstruction, clinical signs and symptoms include inspiratory stridor, respiratory distress, cyanosis, sternal retraction, ribcage asymmetry, and feeding difficulties.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenital nasal pyriform aperture stenosis | Isolated apertura pyriformis stenosis · Isolated nasal pyriform aperture hypoplasia |
| fr | Sténose congénitale isolée des orifices piriformes | Hypoplasie des orifices piriformes |
| de | Stenose der Apertura piriformis, kongenitale, isolierte | |
| es | Estenosis aislada congénita de la apertura piriforme nasal | Estenosis aislada de la apertura piriforme · Hipoplasia aislada de apertura nasal piriforme |
| it | Stenosi congenita e isolata dell'apertura piriforme del naso | Ipoplasia isolata degli orifizi piriformi nasali · Stenosi isolata degli orifizi piriformi |
| nl | Geïsoleerde congenitale nasale pyriforme openingstenose | Geïsoleerde apertura pyriformis stenosis · Geïsoleerde nasale pyriforme openinghypoplasie |
| pt | Estenose da abertura piriforme nasal congénita, isolada | |
| pl | Izolowane wrodzone zwężenie otworu gruszkowego nosa | Izolowana hipoplazja otworu gruszkowego nosa · Izolowane zwężenie otworu gruszkowego nosa |
| cs | Vrozená izolovaná stenóza apertura pyriformis | Izolovaná stenóza apertura pyriformis · Izolovaná hypoplázie apertura pyriformis |
| uk | Ізольований вроджений стеноз піраміди носової раковини | Ізольований стеноз пірамідного отвору діафрагми · Ізольована гіпоплазія носової піраміди |
| zh | 单纯性先天性鼻梨状窝狭窄 | 孤立性鼻梨状孔发育不良 |
| tr | İzole doğumsal nazal piriform açıklık stenozu | İzole apertura piriformis stenozu · İzole nazal apertura piriformis hipoplazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q30.8 | NTBT | attributed | validated |
| ICD-11 | LA70.Y | NTBT | index | validated |
| MONDO | 0015568 | E | validated | |
| UMLS | C3839990 | E | validated | |
| MedDRA | 10089480 | 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
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/162516
- This record as JSON: /data/d/162516.json