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ORPHA:500188

X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome

medium confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.

Publications

248

65.6th percentile

Trials

—

Interventional, condition-specific

Researchers

36

Distinct authors in sample

Gene link

GPRASP2

Limited

Readiness

3/6

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.

Orphanet entry

Cross-references

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

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.”

3/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedPresent

    Limited — GPRASP2

  2. LiteraturePresent

    248 matched papers (173 in last 10 years) Source

  3. Phenotype characterisedPresent

    11 HPO annotations (e.g. Intellectual disability; Posteriorly rotated ears; Stenosis of the external auditory canal) Source

  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 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)

11

Associated phenotypes · MONDO:0044702

  • Intellectual disability
  • Posteriorly rotated ears
  • Stenosis of the external auditory canal
  • Hearing impairment
  • Thick eyebrow

Showing 5 of 11 — open Monarch for the full list.

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?

248

248 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=3967) is 59.

248 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).

173 in the last 10 years · medium confidence · 65.6th percentile (publications denominator)

Phrase hits: 5 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Dai P1 paper · 2021

    Department of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.

    Papers in Europe PMC
  2. 02
    Di XH1 paper · 2023

    Medical Research Center, Taizhou Hospital, Wenzhou Medical University, Wenzhou, Zhejiang, China.

    Papers in Europe PMC
  3. 03
    Ding J1 paper · 2021

    Department of Immunology, College of Basic Medicine.

    Papers in Europe PMC
  4. 04
    Duan L1 paper · 2021

    Department of Prenatal Diagnosis, Reproductive Medicine Center, The First Affiliated Hospital of Xinjiang Medical University.

    Papers in Europe PMC
  5. 05
    Fan 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
  6. 06
    Fei 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
  7. 07
    Friedman 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
  8. 08
    Fu 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
  9. 09
    Gao B1 paper · 2021

    Department of Otolaryngology, Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.

    Papers in Europe PMC
  10. 10
    Gao Y1 paper · 2021

    GrandOmics Biosciences, Beijing 100000, China.

    Papers in Europe PMC

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 11 September 2026 · last trial check 28 July 2026

medium 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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism 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.

("X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" OR "DFNX7" OR "deafness, X-linked 7") OR ("GPRASP2" OR "GPRASP2 syndrome" OR "GPRASP2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

(empty)

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&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
  • Publication count (248) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T17:42:11.690Z