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choanal atresia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

choanal atresia

MONDO:0012155

Also known as:atresia of naresimperforate naresposterior choanal atresia

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Overview

Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.

Clinical Trials2 registered

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 common findings: Nasal congestion, Chronic sinusitis, and Abnormal nasal mucus secretion; and sometimes findings: Cyanosis, Craniosynostosis, Laryngomalacia, and Subglottic stenosis and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Respiratory distress, Recurrent respiratory infections, Upper airway obstruction

Prognosis

Phenotype severity distribution: 3 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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.

2 clinical trials registered. Interventions under study include medical devices and procedural interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

65 publications have been identified in PubMed for choanal atresia. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (18%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	35

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 7:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608911

Orphanet

European rare disease database

Orphanet:137914

GARD

Genetic and Rare Diseases Info Center

GARD:16951

Questions for Your Care Team

→Are any of the 2 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

choanal atresia

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

choanal atresia

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications