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ORPHA:420402

Semicircular canal dehiscence syndrome

low confidenceDisorder

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,598 matched papers (1,062 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

1,598 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,062 in the last 10 years · low confidence

Phrase hits: 1,598 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Carey JP11 papers · 2025

    Department of Otolaryngology-Head and Neck Surgery, Johns Hopkins School of Medicine, Baltimore, Maryland.

    Papers in Europe PMC
  2. 02
    Yang 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
  3. 03
    Lee DJ5 papers · 2026

    Department of Otolaryngology, Massachusetts Eye and Ear Infirmary.

    Papers in Europe PMC
  4. 04
    Marx 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
  5. 05
    Yang HH5 papers · 2026

    Departments of1Head and Neck Surgery and.

    Papers in Europe PMC
  6. 06
    Carlson ML4 papers · 2026

    Department of Otorhinolaryngology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  7. 07
    Dlugaiczyk 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
  8. 08
    Gallois 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
  9. 09
    Gopen QS4 papers · 2026

    Departments of1Head and Neck Surgery and.

    Papers in Europe PMC
  10. 10
    Legois 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 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 14 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (14)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Semicircular canal dehiscence syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

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