荷斯坦奶牛脊柱畸形综合征是近年新发现的一种常染色体隐性遗传病，该病对纯合子胎儿是致死性的。当荷斯坦牛的育种核心群中携带者达到一定比例，脊柱畸形综合征就会对奶业造成巨大损失。文章综述了脊柱畸形综合征的主要症状和影响、致病基因及检测方法的研究进展以及我国潜在的荷斯坦奶牛脊柱畸形综合征携带者的状况。

Complex vertebral malformation (CVM), a lethal autosomal recessive inherited defect in Holstein breed, was newly reported in Demark. If the proportion of CVM carriers in the nucleus breeding group of Holstein is high, great economic losses to dairy industry would be caused by the death of affected homozygous fetuses and the abortion of pregnant cows. The main symptoms and some important influences of CVM to dairy industry were reviewed, The process of researches on the CVM and the testing methods were explicated, and the status of potential CVM carriers in China was also discussed.