ORPHA:141121
Congenital subglottic stenosis
Publications
190
65.1th percentile
Trials
1
Interventional, condition-specific
Researchers
795
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare larynx anomaly characterized by a partial or complete narrowing of the upper airway extending from just below the vocal folds to the lower border of the cricoid cartilage. Clinical presentation is variable and includes recurrent, croup-like, upper respiratory infections, stridor, dyspnea, barking cough, and in most severe cases acute airway compromise at delivery. It may be an isolated finding, or associated with other anomalies and syndromes.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015395
- UMLS:C0396051
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
190 matched papers (92 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
1 matched on ClinicalTrials.gov
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?
190
190 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
190 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).
92 in the last 10 years · high confidence · 65.1th percentile (publications denominator)
Phrase hits: 190 · MeSH hits: 0
Who's working on it?
795
Distinct author names in 190 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.
- 01Holinger LD6 papers · 2008
Division of Pediatric Otolaryngology, Children's Memorial Hospital, Chicago, IL 60614.
Papers in Europe PMC - 02Alshammari J4 papers · 2023
Division of Otolaryngology Head & Neck Surgery, King Abdullah Specialized Children Hospital (KASCH), King Abdulaziz Medical City (KAMC), National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.
Papers in Europe PMC - 03Gupta A3 papers · 2016
Department of ENT-HNS, Army Hospital (R&R), Delhi Cantt, India.
Papers in Europe PMC - 04Sandu K3 papers · 2026
Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 05Zhang J3 papers · 2026
Department of Pulmonary and Critical Care Medicine, Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 06Alkhatib T2 papers · 2022
Department of Otolaryngology-Head and Neck Surgery, King Abdulaziz University Hospital, 3741 Ali bin Hassan, Almadina Almonawara, Jeddah, 42394-7217 Saudi Arabia.
Papers in Europe PMC - 07Arafat A2 papers · 2023
Division of Otolaryngology Head & Neck Surgery, King Abdullah Specialized Children Hospital (KASCH), King Abdulaziz Medical City (KAMC), National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.
Papers in Europe PMC - 08Bach Á2 papers · 2022
Department of Otorhinolaryngology and Head & Neck Surgery, University of Szeged, Szeged, Hungary.
Papers in Europe PMC - 09Bailey CM2 papers · 1990Papers in Europe PMC
- 10Berchi FJ2 papers · 2000Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
"Congenital subglottic stenosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital subglottic stenosis"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
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 2026-07-27T07:53:02.221Z