Rare diseases · Sign or symptom
Tracheal atresia
HP:0100682
What it means
A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.
Diagnosis can be made if the neonate presents with respiratory distress at birth, unable to produce an audible cry in spite of an obvious physical effort, and cannot be intubated but shows some improvement when ventilated by bag and mask.
Rare diseases that can present with this3
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
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.