oculoauriculovertebral spectrum with radial defects
Findings
No curated finding names oculoauriculovertebral spectrum with radial defects yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.
Definition from the Mondo Disease Ontology (MONDO:0007712), read 2026-09-29. CC BY 4.0.
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.
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Abnormality of the inner earHPOHP:0000359
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the thumbHPOHP:0009601
- Very frequent (80% to 99% of cases)
- Facial asymmetryHPOHP:0000324
- Very frequent (80% to 99% of cases)
- Laryngeal stridorHPOHP:0006511
- Very frequent (80% to 99% of cases)
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.
- MYT1HGNC:7622
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: oculoauriculovertebral spectrum with radial defects
- Also called
- hemifacial microsomia-radial defects syndromeMoeschler-Clarren syndrome