ORPHA:137914
Choanal atresia
Publications
5,723
96.3th percentile
Trials
2
Interventional, condition-specific
Researchers
1,087
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Choanal atresia (CA) is a 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.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012155
- MeSH:D002754
- OMIM:608911
- UMLS:C0008297
Additional Mondo synonyms (1)
atresia of nares
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
5,723 matched papers (2,933 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
2 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
5,723
5,723 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
5,723 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
2,933 in the last 10 years · high confidence · 96.3th percentile (publications denominator)
Phrase hits: 5,723 · MeSH hits: 133
Who's working on it?
1,087
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Baumann I6 papers · 2026
Hals-, Nasen- und Ohrenklinik, Universitätsklinikum Heidelberg.
Papers in Europe PMC - 02Blake K5 papers · 2026
Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
Papers in Europe PMC - 03Schuler PJ4 papers · 2026
Department of Otorhinolaryngology, University Hospital Heidelberg, Heidelberg, Germany.
Papers in Europe PMC - 04Yılmaz Topçuoğlu MS4 papers · 2026
Department of Otorhinolaryngology, University Hospital Heidelberg, Heidelberg, Germany. Electronic address: miray-su.yilmaztopcuoglu@med.uni-heidelberg.de.
Papers in Europe PMC - 05
- 06Huang Z3 papers · 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Papers in Europe PMC - 07Westhoff JH3 papers · 2026
Department I, Center for Pediatric and Adolescent Medicine, Medical Faculty Heidelberg, Heidelberg University, University Hospital Heidelberg, Heidelberg, Germany.
Papers in Europe PMC - 08Wu J3 papers · 2026
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Papers in Europe PMC - 09Aguirre Balseca M2 papers · 2026
Department of Health Sciences, University of the Hemispheres, Quito, Ecuador.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07173023·NOT YET RECRUITING·A Comparative Study of Endoscopic Choanal Canalization and Mitomycin C Application vs Endoscopic Crossover Flap Technique
Conditions: Choanal Atresia·Matched via name + MeSH
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06890442·NOT YET RECRUITING·Skull Bon Variations in Patient with Congenital Unilatral Choanal Atresia
Conditions: Atresia·Matched via name + MeSH
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Choanal atresia" OR "atresia of nares" OR "atresia of the nares"
MeSH descriptor terms unioned into the query: Choanal Atresia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Choanal atresia" OR "atresia of nares" OR "atresia of the nares"
Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T07:32:21.652Z