Oculo-auriculo-vertebral spectrum
ORPHA:141132· ICD-10 Q87.0
Definition
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal