auriculocondylar syndrome
Findings
No curated finding names auriculocondylar syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0000107), read 2026-09-29. CC BY 4.0.
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal pinna morphologyHPOHP:0000377
- Very frequent (80% to 99% of cases)
- Frequent (30% to 79% of cases)
- Cleft helixHPOHP:0009902
- Very frequent (80% to 99% of cases)
- Mandibular condyle hypoplasiaHPOHP:0007628
- Very frequent (80% to 99% of cases)
- Abnormality of the crus of the helixHPOHP:0009895
- Frequent (30% to 79% of cases)
- Abnormality of the temporomandibular jointHPOHP:0010754
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the external earHPOHP:0008772
- Frequent (30% to 79% of cases)
- Bifid uvulaHPOHP:0000193
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Dental crowdingHPOHP:0000678
- Frequent (30% to 79% of cases)
- Dental malocclusionHPOHP:0000689
- Frequent (30% to 79% of cases)
- Facial asymmetryHPOHP:0000324
- Frequent (30% to 79% of cases)
- Full cheeksHPOHP:0000293
- Frequent (30% to 79% of cases)
Show the remaining 21
- GlossoptosisHPOHP:0000162
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Narrow mouthHPOHP:0000160
- Frequent (30% to 79% of cases)
- Obstructive sleep apneaHPOHP:0002870
- Frequent (30% to 79% of cases)
- Periauricular skin pitsHPOHP:0100277
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GNAI3HGNC:4387
- Moderate · ClinGen · Autosomal dominant · 2026
- Supportive · Orphanet · Autosomal dominant · 2021
- EDN1HGNC:3176
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal recessive · 2025
- PLCB4HGNC:9059
- Supportive · Orphanet · Autosomal dominant · 2021
- HDAC9HGNC:14065
- Disputed Evidence · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: auriculocondylar syndrome
- Also called
- auriculo-condylar syndromequestion mark ear syndrome