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congenital tracheomalacia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital tracheomalacia

MONDO:0019804

Also known as:congenital major airway collapsetracheomalacia, congenitaltracheomalacia

Find Clinical TrialsTrials

Overview

Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.

Clinical Trials4 registered · 1 recruiting

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: Tracheomalacia and Anomalous tracheal cartilage; and common findings: Laryngomalacia, Difficulty breathing (respiratory insufficiency), Recurrent upper respiratory tract infections, and Stridor and others. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	15	Difficulty breathing (respiratory insufficiency), Recurrent upper respiratory tract infections, Wheezing

Diagnosis

Biomarker and diagnostic research for congenital tracheomalacia has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features, 7 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

4 clinical trials registered, 1 recruiting. Interventions under study include other interventions, procedural interventions, drug therapy, and medical devices. Pipeline includes 1 PHASE3, 3 NA. Research is primarily sponsored by academic and government institutions.

104 publications have been identified in PubMed for congenital tracheomalacia. Kisho has analyzed 61 by research type. Research spans Review / Meta-Analysis (30%), Case Report / Case Series (21%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Research summaries

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:95430

GARD

Genetic and Rare Diseases Info Center

GARD:10515

Questions for Your Care Team

→Are any of the 4 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

congenital tracheomalacia

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Anesthesia management of a child with Melnick-Needles syndrome associated with retrognathia and significant tracheomalacia.

congenital tracheomalacia

Overview

Clinical Presentation

Diagnosis

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

Latest News & Developments

Anesthesia management of a child with Melnick-Needles syndrome associated with retrognathia and significant tracheomalacia.