Most cases of the oculo-ariculo-vertebral syndrome are sporadic and there is a strong tendency of the autosomal dominant inheritance pattern. This disease is characteristic of etiology heterogeneity, incomplete penetrance and the variable expressivity. Researches of the genetic etiology in the disease have employed molecular genetics and the animal model as the basic instruments to seek and explore the relevant pathogenic genes and chromosomes. Further studies should focus on establishing the minimum standard of the disease and classifying the patients rationally which may deduce the right genetics pattern. This article was aimed to summarize related researches of the genetic pattern and genetic etiologies of oculo-ariculo-vertebral syndrome.
