ORPHA:141074
External auditory canal aplasia/hypoplasia
Also known as: External auditory canal stenosis/atresia
Clinical definition (Orphanet)
A rare, otorhinolaryngological characterized by failure in development of the external ear canal resulting in variable degree of malformations ranging from complete absence to mild stenosis and of the middle ear. It is typically unilateral, it manifests with hearing loss on the affected side, and might be associated with microtia or hypoplastic pinna, an aberrant facial nerve course, and cholesteatoma.
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=183) is 38.
5 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
5 in the last 10 years · high confidence · 22.4th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
31
Distinct author names in 5 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01
- 02Ahid F1 paper · 2023
Centre for Medical Laboratory Technology Studies, Faculty of Health Sciences, Universiti Teknologi MARA, 42300, Puncak Alam, Selangor, Malaysia. fadlyahid@uitm.edu.my.
Papers in Europe PMC - 03Alberti C1 paper · 2017
Université Paris Diderot - Sorbonne Paris Cité, INSERM, Laboratoire ECEVE UMR1123, Paris, France.
Papers in Europe PMC - 04Benson J1 paper · 2023
Department of Otolaryngology & Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts, USA.
Papers in Europe PMC - 05Berdal A1 paper · 2017
Centre de référence des malformations rares de la face et de la cavité buccale, Hôpital Rothschild, AP-HP, Paris, France.
Papers in Europe PMC - 06
- 07Choquet R1 paper · 2017
Banque Nationale de Données Maladies Rares, Hôpital Necker Enfants Malades, AP-HP, Paris, France.
Papers in Europe PMC - 08de Chalendar M1 paper · 2017
Filière de santé maladies rares TETECOU: malformations rares de la tête, du cou et des dents, Hôpital Necker, Paris, France.
Papers in Europe PMC - 09De La Dure Molla M1 paper · 2017
Centre de référence des malformations rares de la face et de la cavité buccale, Hôpital Rothschild, AP-HP, Paris, France.
Papers in Europe PMC - 10Díaz-Santiago E1 paper · 2020
Department of Molecular Biology and Biochemistry, University of Malaga, Malaga, Spain.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
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 below but are not added to the query string.
"External auditory canal aplasia/hypoplasia" OR "External auditory canal stenosis/atresia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"External auditory canal aplasia/hypoplasia" OR "External auditory canal stenosis/atresia"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
0Query 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