Isolated tracheoesophageal fistula
Synonyms: H-type tracheoesophageal fistula
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare, congenital, esophageal malformation characterized by the presence of an abnormal connection between the esophagus and the trachea (typically occurring in the lower cervical or upper thoracic area and taking an oblique path upward to trachea), without concomitant esophageal atresia. Depending on the size of the lumen, presentation varies from neonatal episodes of choking and cyanosis on feeding to subtle symptoms of wheezing and recurrent respiratory infections in childhood or early adulthood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated tracheoesophageal fistula | H-type tracheoesophageal fistula |
| fr | Fistule trachéo-oesophagienne isolée | Fistule trachéo-oesophagienne de type H |
| de | Tracheoösophageale Fistel, isolierte | Tracheo-ösophageale Fistel, isolierte, Typ H |
| es | Fístula traqueoesofágica aislada | Fístula traqueoesofágica tipo H |
| it | Fistola tracheo-esofagea isolata | |
| nl | Geïsoleerde tracheo-oesofageale fistel | tracheo-oesofageale fistel, H-type |
| pt | Fistula traqueo-esofágica isolada | |
| pl | Izolowana przetoka tchawiczo-przełykowa | = en |
| cs | Izolovaná tracheoezofageální píštěl | = en |
| uk | Ізольована трахеостравохідна нориця | Трахеостравохідна нориця Н-типу |
| zh | 孤立性气管食管瘘 | H型气管食管瘘 |
| tr | İzole trakeoözofageal fistül | H-tipi trakeoözofageal fistül |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q39.2 | E | specific | validated |
| ICD-11 | LB12.2 | NTBT | index | validated |
| MONDO | 0018694 | E | validated | |
| MeSH | D014138 | E | validated | |
| UMLS | C0040588 | E | validated | |
| GARD | 21895 | E | validated | |
| MedDRA | 10044310 | 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 (3):
- 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
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4.2 / 100 000 | Australia | Value and class | Validated | 25976171[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.2 / 100 000 | Worldwide | Value and class | Validated | 22945024[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.2 / 100 000 | Worldwide | Value and class | Validated | 22945024[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 4.2 / 100 000 | Australia | Value and class | Validated | 25976171[PMID]_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
10 annotations · validated 2024-10-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030842 | Choking episodes | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0033362 | Recurrent coughing spasms | |
| HP:0006532 | Recurrent pneumonia | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0200048 | Cyanotic episode | |
| HP:0001508 | Failure to thrive | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0002098 | Respiratory distress | |
Annotation source: 30570997[PMID]_33815610[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/454750
- This record as JSON: /data/d/454750.json