Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

auriculocondylar syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

auriculocondylar syndrome

MONDO:0000107

Also known as:auriculo-condylar syndromequestion mark ear syndromedysgnathia complex

Overview

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Mandibular condyle hypoplasia and Cleft helix; and common findings: Abnormal pinna morphology, Narrow mouth, Glossoptosis, and Cleft palate and others. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	6	Mandibular condyle hypoplasia, Cleft helix, Cleft palate

Prognosis

Phenotype severity distribution: 2 very common features, 21 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for auriculocondylar syndrome.

3 publications have been identified in PubMed for auriculocondylar syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Yadav M (2026). [PMID: 41124729](https://pubmed.ncbi.nlm.nih.gov/41124729/). *Eur J Radiol*. [Case Report / Case Series]
Lin Y (2025). [PMID: 38414442](https://pubmed.ncbi.nlm.nih.gov/38414442/). *Cleft Palate Craniofac J*. [Case Report / Case Series]
Shi Y (2024). [PMID: 39014351](https://pubmed.ncbi.nlm.nih.gov/39014351/). *BMC Oral Health*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:137888

GARD

Genetic and Rare Diseases Info Center

GARD:9798

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

auriculocondylar syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features