Complex vertebral malformation

From Cow
Calf afflicted with complex vertebral malformation

Complex vertebral malformation (CVM) is a rare metabolic genetic disorder of cattle worldwide[1].

The disease has been reported in Holstein, Holstein-Friesian and Wagyu breeds[2].

Similar to citrullinemia, factor XI deficiency and leukocyte adhesion deficiency, this genetic disease is autosomal recessive and breed specific[3].

The disease is caused by a mutation in guanine substitution by thymine (G>T) in the solute carrier family 35 member A3 gene[4].

Clinical signs associated with CVM includes abortion, premature births and stillborn calves. In affected calves which survive, poor weight growth and multiple deformities can be observed, such as misshapen spine, tendon contractures and cardiac deformities. Additonal signs have also been noted, including partial hypoplasia of the lung, excessive liver segmentation, doubled gall bladder, rectal atresia, horseshoe kidney, and uterine atresia[5].

Diagnosis is based on PCR analysis of suspect cases and for screening of potential sires[6].

A differential diagnosis would include other causes of abortion and neurological signs such as bovine epizootic abortion, listeriosis, epizootic encephalomyelitis, sporadic bovine encephalomyelitis, Aino virus, rabies and toxoplasmosis.

Treatment is usually unsuccessful. It is recommended to cull the CVM carriers gradually for economical and breeding reasons[7].

As artificial insemination is widely used in dairy cattle breeding, carriers of citrullinemia are likely present within the population of breeding sires. It is recommended to screen breeding sires for these defective genes in order to avoid an unwanted spread within the population[8].


  1. Windsor P & Agerholm J (2009) Inherited diseases of Australian Holstein-Friesian cattle. Aust Vet J 87(5):193-199
  2. Ohba Y et al (2007) Japanese black cattle with orotic aciduria detected by gas-chromatography/mass-spectrometry. J Vet Med Sci 69(3):313-316
  3. Sun DX et al (2011) Short communication: Distribution of recessive genetic defect carriers in Chinese Holstein. J Dairy Sci 94(11):5695-5698
  4. Wang C et al (2011) Identification of complex vertebral malformation carriers in Holstein cattle in south China. Genet Mol Res 10(4):2443-2448
  5. Buck BC et al (2010) Vertebral and multiple organ malformations in a black and white German Holstein calf. Berl Munch Tierarztl Wochenschr 123(5-6):251-255
  6. Wang S et al (2012) A rapid mismatch polymerase chain reaction assay to detect carriers of complex vertebral malformation in Holstein cattle. J Vet Diagn Invest 24(3):568-571
  7. Chu Q et al (2010) Identification of the complex vertebral malformation gene in Chinese Holstein and its association with dairy performance traits. Yi Chuan 32(7):732-736
  8. Meydan H et al(2010) Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey. Acta Vet Scand 52:56