ORPHA:2373
Congenital laryngomalacia
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital laryngomalacia | |
| fr | Laryngomalacie congénitale | |
| de | Laryngomalazie, kongenitale | |
| es | Laringomalacia dominante congénita | |
| it | Laringomalacia congenita | |
| nl | Congenitale laryngomalacie | |
| pt | Laringomalacia congénita | |
| pl | Wrodzona wiotkość krtani | |
| cs | Vrozená laryngomalacie | |
| uk | Вроджена ларингомаляція | |
| zh | 先天性喉软化症 | |
| tr | Doğumsal laringomalazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 150280 | E | validated | |
| ICD-10 | Q31.5 | E | specific | validated |
| ICD-11 | LA71.0 | E | specific | validated |
| MONDO | 0007878 | E | validated | |
| MeSH | D055092 | E | validated | |
| UMLS | C0345160 | E | validated | |
| GARD | 6865 | E | validated | |
| MedDRA | 10060786 | 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 (2):
- ORPHA:435609Genetic larynx anomaly
rare genetic diseases - ORPHA:156249Larynx 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-5 / 10 000 | 40 / 100 000 | Worldwide | Value and class | Validated | 31334986[PMID]_ORPHANET |
| 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
4 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 | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0100335 | Non-midline cleft of the upper lip | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2373
- This record as JSON: /data/d/2373.json