ORPHA:420402
Semicircular canal dehiscence syndrome
Also known as: SCD syndrome
Publications
1,598
Trials
2
Interventional, condition-specific
Researchers
848
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous , while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018484
- UMLS:C4708600
Additional Mondo synonyms (3)
Minor's syndrome · Minorbs syndrome · Superior Semicircular Canal Dehiscence
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
1,598 matched papers (1,062 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
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?
1,598
1,598 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,598 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).
1,062 in the last 10 years · low confidence
Phrase hits: 1,598 · MeSH hits: 0
Who's working on it?
848
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.
- 01Carey JP11 papers · 2025
Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins School of Medicine, Baltimore, Maryland.
Papers in Europe PMC - 02Yang I7 papers · 2026
Department of Neurosurgery, University of California Los Angeles, Los Angeles, CA, United States; Department of Head & Neck Surgery, University of California Los Angeles, Los Angeles, CA, United States; Department of Radiation Oncology, University of California Los Angeles, Los Angeles, CA, United States; Jonsson Comprehensive Cancer Center, University of California Los Angeles, Los Angeles, CA, United States; Department of Surgery, Harbor-UCLA Los Angeles, Los Angeles, CA, United States; Los Angeles Biomedical Research Center, Harbor-UCLA Los Angeles, Los Angeles, CA, United States. Electronic address: Iyang@mednet.ucla.edu.
Papers in Europe PMC - 03Lee DJ5 papers · 2026
Department of Otolaryngology, Massachusetts Eye and Ear Infirmary.
Papers in Europe PMC - 04Marx M5 papers · 2026
Unité Mixte de Recherche UMR5549, CNRS, Centre de Recherche Cerveau et Cognition, Toulouse, France; Service d'ORL, Otoneurologie et ORL pédiatrique CHU Toulouse Purpan, Toulouse, France.
Papers in Europe PMC - 05
- 06Carlson ML4 papers · 2026
Department of Otorhinolaryngology, Mayo Clinic, Rochester, MN, USA.
Papers in Europe PMC - 07Dlugaiczyk J4 papers · 2025
Department of Otorhinolaryngology, Head and Neck Surgery & Interdisciplinary Center of Vertigo, Balance and Ocular Motor Disorders, University Hospital Zurich (USZ), University of Zurich (UZH), Rämistrasse 100, 8091, Zurich, Switzerland. julia.dlugaiczyk@usz.ch.
Papers in Europe PMC - 08Gallois Y4 papers · 2025
Service d'ORL, Otoneurologie et ORL pédiatrique CHU Toulouse Purpan, Toulouse, France; Unité de Recherche UR4156, Laboratoire de Neuropsycholinguistique, Toulouse, France.
Papers in Europe PMC - 09
- 10Legois Q4 papers · 2026
Unité Mixte de Recherche UMR5549, CNRS, Centre de Recherche Cerveau et Cognition, Toulouse, France; Service d'ORL, Otoneurologie et ORL pédiatrique CHU Toulouse Purpan, Toulouse, France. Electronic address: legois.q.prestataire-externe@chu-toulouse.fr.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
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).
low 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.
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.
"Semicircular canal dehiscence syndrome" OR "SCD syndrome" OR "Minor's syndrome" OR "Minorbs syndrome" OR "Superior Semicircular Canal Dehiscence"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Semicircular canal dehiscence syndrome" OR "SCD syndrome" OR "Minor's syndrome" OR "Minorbs syndrome" OR "Superior Semicircular Canal Dehiscence"
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: 2 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
- Publication count (1598) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T15:46:43.866Z