Laryngotracheoesophageal cleft
Synonyms: LC · LTEC · Laryngo-tracheo-esophageal cleft · Laryngo-tracheo-esophageal diastema
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laryngotracheoesophageal cleft | LC · LTEC · Laryngo-tracheo-esophageal cleft · Laryngo-tracheo-esophageal diastema |
| fr | Fente laryngo-trachéo-oesophagienne | Diastème laryngo-trachéo-oesophagien · LC · LTEC |
| de | Laryngo-tracheo-ösophageale Spalte | LC · LTEC · Laryngo-tracheo-oesophageale Diastema |
| es | Hendidura laringotraqueoesofágica | Diastema laringotraqueoesofágica · Hendidura laringo-traqueo-esofágica · LC · LTEC |
| it | Schisi laringo-tracheo-esofagea | Diastema laringo-tracheo-esofageo · LC · LTEC |
| nl | Laryngo-tracheo-oesofageale fissuur | LC · LTEC · Laryngo-tracheo-oesofageaal diasteem |
| pt | Fenda laringo-traqueo-esofágica | |
| pl | Rozszczep krtaniowo-tchawiczo-przełykowy | Laryngo-tracheo-esophageal diastema · LC · LTEC · LC · LTEC · Przetoka krtaniowo-tchawiczo-przełykowa |
| cs | Laryngotracheoezofageální rozštěp | LC · LTEC · Laryngotracheoezofageální diastéma |
| uk | Ларинготрахеостравохідна розщілина | Ларинго-трахео-стравохідна щілина · Ларинго-трахео-стравохідна діастема · LC · LTEC |
| zh | 喉气管食管裂 | 喉-气管-食管间隙 |
| tr | Laringotrakeoözofageal yarık | LC · LTEC · Laringo-trakeo-özofageal yarık · Laringo-trakeo-özofageal diastema |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215800 | BTNT | validated | |
| ICD-10 | Q32.1 | NTBT | attributed | validated |
| ICD-11 | LA72 | E | specific | validated |
| MONDO | 0016060 | E | validated | |
| MeSH | C537875 | E | validated | |
| UMLS | C1840311 | E | validated | |
| GARD | 3188 | 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 (4):
- ORPHA:156249Larynx anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases - ORPHA:108959Non-syndromic esophageal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases - ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| 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
13 annotations · validated 2019-06-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0008751 | Laryngeal cleft | |
| Frequent (79-30%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0002835 | Aspiration | |
| HP:0030842 | Choking episodes | |
| HP:0012735 | Cough | |
| HP:0000961 | Cyanosis | |
| HP:0002094 | Dyspnea | |
| HP:0001615 | Hoarse cry | |
| HP:0031162 | Impaired oropharyngeal swallow response | |
| HP:0001601 | Laryngomalacia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0010307 | Stridor | |
| Occasional (29-5%) | ||
| HP:0002643 | Neonatal respiratory distress | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 22151899[PMID]_4705933[PMID]_13787605[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2004
- This record as JSON: /data/d/2004.json