Rare diseases · Sign or symptom
Tracheoesophageal fistula
HP:0002575
What it means
An abnormal connection (fistula) between the esophagus and the trachea.
Rare diseases that can present with this37
Very common80–99%
6Common30–79%
7Sometimes5–29%
23- 17q12microduplication syndrome
- 46,XX difference of sex development-anorectal anomalies syndrome
- Acro-renal-mandibular syndrome
- CHARGE syndrome
- Congenital alveolar capillary dysplasia
- Congenital contractural arachnodactyly
- Congenital tracheal stenosis
- Congenital tracheomalacia
and 15 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Abnormal connection between trachea and esophagus · Abnormal connection between trachea and oesophagus
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.