ORPHA:500188
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Publications
5
19.9th percentile
Trials
—
Interventional, condition-specific
Researchers
36
Distinct authors in sample
Gene link
GPRASP2
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndromic genetic deafness characterized by hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and is absent.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0044702
- OMIM:301018
- UMLS:C4746975
Additional Mondo synonyms (2)
DFNX7 · deafness, X-linked 7
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedPresent
Limited — GPRASP2
- LiteraturePresent
5 matched papers (5 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 trialNot checked
Trial fetch failed or incomplete
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?
Possibly — only limited evidence so far for GPRASP2.
GenCC classification: Limited.
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
5 papers have ever been indexed 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.
5 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).
5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)
Phrase hits: 5 · MeSH hits: 0
Who's working on it?
36
Distinct author names in 5 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.
- 01Dai P1 paper · 2021
Department of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
Papers in Europe PMC - 02Di XH1 paper · 2023
Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Papers in Europe PMC - 03
- 04Duan L1 paper · 2021
Department of Prenatal Diagnosis, Reproductive Medicine Center, The First Affiliated Hospital of Xinjiang Medical University.
Papers in Europe PMC - 05Fan S1 paper · 2026
ENT Institute, Department of Otorhinolaryngology, EYE & ENT Hospital, Fudan University, Shanghai 200031, China; (S.F.); (M.X.); (H.Y.); (T.Z.); (J.F.)
Papers in Europe PMC - 06Fei J1 paper · 2026
Department of Medical Technology and Information Engineering, Zhejiang Chinese Medical University, Hangzhou 310053, China; (Y.G.); (J.F.)
Papers in Europe PMC - 07Friedman TB1 paper · 2020
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 08Fu J1 paper · 2026
ENT Institute, Department of Otorhinolaryngology, EYE & ENT Hospital, Fudan University, Shanghai 200031, China; (S.F.); (M.X.); (H.Y.); (T.Z.); (J.F.)
Papers in Europe PMC - 09Gao B1 paper · 2021
Department of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 27 July 2026
high confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
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.
"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" OR "DFNX7" OR "deafness, X-linked 7"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Recall-expansion terms: GPRASP2, inherited auditory system disease
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22X-linked%20external%20auditory%20canal%20atresia-dilated%20internal%20auditory%20canal-facial%20dysmorphism%20syndrome%22%20OR%20%22DFNX7%22%20OR%20%22deafness%2C%20X-linked%207%22%20OR%20%22GPRASP2%22%20OR%20%22inherited%20auditory%20system%20disease%22&format=json&pageSize=100&countTotal=true
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 2026-07-27T17:42:11.690Z