Abstract: Arachnomelia syndrome (AS) is a lethal congenital malformation of skeleton in cattle, which proved to be an autosomal recessive inherited defect. This disease was mainly observed in European Brown Swiss and German Fleckvieh populations. This review focused on the discovery history, pathologic characteristics, mode of inheritance, and progresses on molecular mechanism of AS in both European Brown Swiss and German Fleckvieh populations. Moreover, through analyzing candidate genes in the mapping region related to bone development and using the methods of comparative genomics, this paper provides a starting point of identifying the causal gene(s) of AS and establishing detection method of the mutations.

Key words: arachnomelia syndrome, genetic defect, Brown Swiss, Fleckvieh