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tracheal agenesis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tracheal agenesis

MONDO:0018058

Also known as:congenital absence of tracheatracheal absencecongenital tracheal agenesis

Overview

Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Polyhydramnios, Abnormal cardiac septum morphology, Difficulty breathing (respiratory insufficiency), and Aplasia/Hypoplasia of the lungs and others.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Difficulty breathing (respiratory insufficiency), Aplasia/Hypoplasia of the lungs

Prognosis

Phenotype severity distribution: 5 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for tracheal agenesis.

13 publications have been identified in PubMed for tracheal agenesis. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (23%), and Other (15%).

Research Type	Count	% of Total
Patient case studies	5	38%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3346

GARD

Genetic and Rare Diseases Info Center

GARD:5233

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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tracheal agenesis

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

tracheal agenesis

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications