Larynx atresia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare larynx anomaly characterized by complete absence of the laryngeal lumen resulting in congenital upper airway obstruction syndrome which, without fetal or neonatal intervention, is incompatible with life. Fetal sonography shows a dilated trachea, hyperechoic lungs, pleural effusion, minimal fetal abdominal ascites or hydrops, and amniotic fluid abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Larynx atresia | |
| fr | Atrésie du larynx | |
| de | Kehlkopfatresie | Larynx-Atresie |
| es | Atresia de laringe | |
| it | Atresia laringea | |
| nl | Larynxatresie | |
| pt | Atresia laringea | |
| pl | Atrezja krtani | |
| cs | Atrézie laryngu | |
| uk | Атрезія гортані | |
| zh | 喉闭锁 | |
| tr | Gırtlak atrezisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 150300 | E | validated | |
| ICD-10 | Q31.8 | NTBT | inclusion | validated |
| ICD-11 | LA71.Y | NTBT | index | validated |
| MONDO | 0007879 | E | validated | |
| UMLS | C0265756 | E | validated | |
| GARD | 3194 | 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 (2):
- ORPHA:435609Genetic larynx anomaly
rare genetic diseases - ORPHA:156249Larynx anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0001601 | Laryngomalacia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002093 | Respiratory insufficiency | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0004322 | Short stature | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1202
- This record as JSON: /data/d/1202.json