ORPHA:137888
Auriculocondylar syndrome
Also known as: Question mark ear syndrome
Publications
162
67.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,045
Distinct authors in sample
Gene link
EDN1, HDAC9
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include , ptosis, cleft palate, full cheeks, , hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported.
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:0000107
- MeSH:C538270
- UMLS:C1865295
Additional Mondo synonyms (2)
auriculo-condylar syndrome · question mark ear syndrome
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Limited — EDN1, HDAC9
- LiteraturePresent
162 matched papers (105 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 found
No matched interventional trial under our ClinicalTrials.gov rules
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 EDN1, HDAC9.
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?
162
162 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=5449) is 41.
162 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).
105 in the last 10 years · medium confidence · 67.2th percentile (publications denominator)
Phrase hits: 162 · MeSH hits: 2
Who's working on it?
1,045
Distinct author names in 162 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.
- 01Amiel J13 papers · 2023
INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris 75015, France. Electronic address: jeanne.amiel@inserm.fr.
Papers in Europe PMC - 02Gordon CT13 papers · 2023
INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France. Electronic address: chris.gordon@inserm.fr.
Papers in Europe PMC - 03Guion-Almeida ML9 papers · 2017
Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru 17012-900, Brazil.
Papers in Europe PMC - 04Lyonnet S9 papers · 2018
INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris 75015, France.
Papers in Europe PMC - 05Passos-Bueno MR9 papers · 2022
Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Papers in Europe PMC - 06Clouthier DE8 papers · 2025
Department of Craniofacial Biology, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045, USA.
Papers in Europe PMC - 07Cunningham ML8 papers · 2026
Department of Pediatrics, Seattle Children's Craniofacial Center, University of Washington, Seattle, Washington, United States of America.
Papers in Europe PMC - 08Kokitsu-Nakata NM8 papers · 2022
Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, Brazil.
Papers in Europe PMC - 09Zechi-Ceide RM8 papers · 2017
Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru 17012-900, Brazil.
Papers in Europe PMC - 10Zhang Y7 papers · 2025
Jiangsu Key Laboratory of Oral Diseases, Nanjing Medical University, Nanjing, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
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 — 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 on the overview but are not added to the query string.
"Auriculocondylar syndrome" OR "Question mark ear syndrome" OR "auriculo-condylar syndrome"
MeSH descriptor terms unioned into the query: Auriculo-condylar syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Auriculocondylar syndrome" OR "Question mark ear syndrome" OR "auriculo-condylar syndrome" OR "EDN1" OR "HDAC9"
Recall-expansion terms: EDN1, HDAC9
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T07:31:14.024Z