Oculo-Auriculo-Vertebral Spectrum: A Review of the Literature

Oculo-auriculo-vertebral spectrum (OAVS, MIM 164210) is a developmental disorder affecting the first and second branchial arches during embryogenesis. The phenotype is clinically heterogeneous and is typically characterized by abnormal development of the ear, hemifacial microsomia, and defects of the vertebral column. OAVS may occur as a multiple congenital abnormality syndrome and associated findings include anomalies of the eye, brain, heart, kidneys and other organs and systems. Both genetic and environmental factors are thought to contribute to this craniofacial condition, however, the mechanisms are still poorly understood. Here we present a review of the literature on OAVS, discussing what is known about the aetiology, possible mechanisms and the range of clinical features that characterise this condition. We also comment on some important aspects of recurrence risk counselling to aid clinical management.