oculoauricular syndrome
Findings
No curated finding names oculoauricular syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).
Definition from the Mondo Disease Ontology (MONDO:0012802), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
30 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.
- CataractHPOHP:0000518
- 3 of 3 reported patients
- Developmental cataractHPOHP:0000519
- 2 of 2 reported patients · Congenital onset
- Iris colobomaHPOHP:0000612
- 3 of 3 reported patients
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients
- MicrophthalmiaHPOHP:0000568
- 3 of 3 reported patients
- Posterior embryotoxonHPOHP:0000627
- 2 of 2 reported patients
- MicrophakiaHPOHP:0012376
Show the remaining 18
- NystagmusHPOHP:0000639
- 1 of 3 reported patients
- 1 of 2 reported patients · Congenital onset
- Retinal colobomaHPOHP:0000480
- 1 of 2 reported patients
- Absent earlobeHPOHP:0000387
- 1 of 3 reported patients
- Chorioretinal atrophyHPOHP:0000533
- 1 of 3 reported patients
- Chorioretinal colobomaHPOHP:0000567
- 1 of 3 reported patients
- Cone/cone-rod dystrophyHPOHP:0000548
- 1 of 3 reported patients
Genes
1 gene
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.
- HGNC:5017HGNC:5017
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of