Laryngotracheoesophageal cleft
diseaseOn this page
Also known as congenital cleft larynxLarnygeotracheoesophageal cleftlaryngeal cleftlaryngo-tracheo-esophageal cleftlaryngo-tracheo-esophageal diastemaLCLTECtracheal cleft
Summary
Laryngotracheoesophageal cleft (MONDO:0016060) is a disease (an umbrella term covering 6 Mondo subtypes) and 2 clinical trials. A subtype of tracheal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
- Umbrella term: 6 Mondo subtypes
- Phenotypes (HPO): 13
- Clinical trials: 2
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7.5 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
13 HPO clinical features (Orphanet curated; top 13 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0008751 | Laryngeal cleft | Obligate (100%) |
| HP:0000961 | Cyanosis | Frequent (30-79%) |
| HP:0001601 | Laryngomalacia | Frequent (30-79%) |
| HP:0001608 | Abnormality of the voice | Frequent (30-79%) |
| HP:0001615 | Hoarse cry | Frequent (30-79%) |
| HP:0002094 | Dyspnea | Frequent (30-79%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (30-79%) |
| HP:0002835 | Aspiration | Frequent (30-79%) |
| HP:0010307 | Stridor | Frequent (30-79%) |
| HP:0012735 | Cough | Frequent (30-79%) |
| HP:0030842 | Choking episodes | Frequent (30-79%) |
| HP:0031162 | Impaired oropharyngeal swallow response | Frequent (30-79%) |
| HP:0002643 | Neonatal respiratory distress | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | laryngotracheoesophageal cleft |
| Mondo ID | MONDO:0016060 |
| MeSH | C537875 |
| Orphanet | 2004 |
| ICD-11 | 271795917 |
| NCIT | C98622 |
| SNOMED CT | 232461002 |
| GARD | 0003188 |
| Is cancer (heuristic) | no |
Also known as: congenital cleft larynx · Larnygeotracheoesophageal cleft · laryngeal cleft · laryngo-tracheo-esophageal cleft · laryngo-tracheo-esophageal diastema · LC · LTEC · tracheal cleft
Disease family
This is a subtype of tracheal disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › respiratory system disorder › lower respiratory tract disorder › tracheal disorder › laryngotracheoesophageal cleft
Related subtypes (7): tracheal calcification, tracheal stenosis, chronic obstructive pulmonary disease, tracheitis, isolated tracheo-esophageal fistula, congenital tracheomalacia, trachea neoplasm
Subtypes (6): cleft larynx, posterior, laryngotracheoesophageal cleft type 0, laryngotracheoesophageal cleft type 1, laryngotracheoesophageal cleft type 2, laryngotracheoesophageal cleft type 3, laryngotracheoesophageal cleft type 4
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 2.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT07057258 | Not specified | ENROLLING_BY_INVITATION | Injection Versus Suture Repair of Laryngeal Clefts |
| NCT03455881 | Not specified | UNKNOWN | Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.