Bovine Genetic Diseases – Old Syndromes in a New Perspective

Congenital malformations have always fascinated humans but it was not until recently that deeper knowledge on their causes have become more evident. The development within genomic analysis has until now resolved the molecular cause of almost 200 bovine genetic diseases. However, the cause of certain well-known congenital syndromes in cattle have remained unexplained. The Danish Bovine Genetic Disease Program was in its current form established in 1989 and many genetic diseases have been investigated. Lately, we have focused on some well-known congenital disorders: schistosoma reflexum, congenital syndromic Chiari-like malformation and the bulldog calf syndrome. Genetic analyses of such cases sampled as part of the bovine genetic disease surveillance in Denmark have confirmed their genetic etiology. Investigations into a fourth congenital syndrome, perosomus elumbis, are underway.