OMIA:000789-9913 : Perosomus elumbis in Bos taurus (taurine cattle)

In other species: Rhesus monkey , dog , horse , pig , sheep

Categories: Embryo phene

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: "Perosomus elumbis (PE) is a lethal congenital defect characterized by absence of the caudal parts of the spine and spinal cord, i.e. lumbar, sacral and coccygeal spinal segments with associated musculoskeletal malformations of the hind quarters." (Agerholm et al., 2014; see cattle entry)

Species-specific description: Jacinto et al. (2020) reported a "stillborn purebred Holstein male calf" with a "form of bovine achondrogenesis type II [OMIA 001926-9913] that occurred in combination with the perosomus elumbis (PE)" likely caused by a 6679bp deletion in the COL2A1 gene. This led them to "postulate the COL2A1 gene as a possible candidate gene for PE in cattle".

History: This disorder was first described by Gurlt (1832) and subsequently by other (mostly German) authors listed by Jones (1999).

Inheritance: As reported by Agerholm et al. (2014), "Investigations into a possible genetic etiology of PE in cattle have not been reported, so a possible genetic etiology remains non-elucidated . . . "

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:000789-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Mee, J.F., Murphy, D., Curran, M. :
Bovine congenital defects recorded by veterinary practitioners. Reprod Domest Anim 59:e14501, 2024. Pubmed reference: 37975255. DOI: 10.1111/rda.14501.
2021 Barber, A.M., Helms, A., Thompson, R., Whitlock, B.K., Steffen, D.J., Petersen, J.L. :
Whole-genome sequencing to investigate a possible genetic basis of perosomus elumbis in a calf resulting from a consanguineous mating Translational Animal Science 5:S1-S5, 2021. DOI: 10.1093/tas/txab171.
Jacinto, J.G.P., Häfliger, I.M., Gentile, A., Drögemüller, C., Bolcato, M. :
A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis. Anim Genet 52:244-245, 2021. Pubmed reference: 33316082. DOI: 10.1111/age.13033.
2020 Helms, A.B., Thompson, R.E., Lawton, S., Petersen, J.L., Watson, A., Sula, M.J., Steffen, D., Whitlock, B.K. :
Uterine Torsion Dystocia Complicated by Perosomus Elumbis in an Angus Calf Associated with a Consanguineous Mating. Case Rep Vet Med 2020:6543037, 2020. Pubmed reference: 32095313. DOI: 10.1155/2020/6543037.
2014 Agerholm, J.S., Holm, W., Schmidt, M., Hyttel, P., Fredholm, M., McEvoy, F.J. :
Perosomus elumbis in Danish Holstein cattle. BMC Vet Res 10:227, 2014. Pubmed reference: 25253618. DOI: 10.1186/s12917-014-0227-2.
2013 Karakaya, E., Alpay, G., Yilmazbas-Mecitoglu, G., Alasonyalilar-Demirer, A., Akgül, B., Inan-Ozturkoglu, S., Ozyigit, M.O., Seyrek-Intas, D., Seyrek-Intas, K., Yesilbag, K., Gumen, A., Keskin, A. :
Perosomus elumbis in a Holstein calf infected with bovine viral diarrhea virus. Tierarztl Prax Ausg G Grosstiere Nutztiere 41:387-91, 2013. Pubmed reference: 24326794.
2009 Buck, B., Ulrich, R., Kuiper, H., Meyer, W., Hewicker-Trautwein, M., Distl, O. :
Perosomus elumbis in a black and white German Holstein calf. Berl Munch Tierarztl Wochenschr 122:386-90, 2009. Pubmed reference: 19863011.
Testoni, S., Agerholm, J.S., Gentile, A. :
Perosomus elumbis in calves. Folia Vet. 53 (Suppl. 1):32-33, 2009.
2008 Son, J.M., Yong, H.Y., Lee, D.S., Choi, H.J., Jeong, S.M., Lee, Y.W., Cho, S.W., Shin, S.T., Cho, J.K. :
A case of perosomus elumbis in a Holstein calf. J Vet Med Sci 70:521-3, 2008. Pubmed reference: 18525179.
2007 Lee, Y., Choi, H., Chang, D., Eom, K., Yoon, J., Choi, M., Lee, K., Yeon, S., Lee, H., Won, C., Lee, H. :
Imaging diagnosis--perosomus elumbis in a Korean calf. Vet Radiol Ultrasound 48:30-1, 2007. Pubmed reference: 17236356.
2003 Castro, M.B., Szabó, M.P., Hokamura, H.K., Romano, M.A. :
Perosomus elumbis in a Holstein calf in Brazil. Vet Rec 152:753, 2003. Pubmed reference: 12833937.
1999 Jones, C.J. :
Perosomus elumbis (vertebral agenesis and arthrogryposis) in a stillborn Holstein calf. Vet Pathol 36:64-70, 1999. Pubmed reference: 9921758.
1994 Bezek, D.M., Williams, J.F., Biller, D.S. :
What is your diagnosis? Perosomus elumbis in a bovine fetus. J Am Vet Med Assoc 205:1685-6, 1994. Pubmed reference: 7744640.
1973 Greene, H.J., Leipold, H.W., Dennis, S.M. :
Perosomus elumbis in Hereford calves Veterinary Medicine and Small Animal Clinician 68:167-168, 1973. Pubmed reference: 4486939.
1832 Gurlt, E.F. :
Lehrbuch der pathogischen Anatomie der Haus-Saugethiere, 2. Teil, Atlas. G. Reimer, Berlin, Germany:88-91 and plate IV, no. 1, 1832.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 26 Oct 2011
  • Changed by Frank Nicholas on 02 Oct 2014
  • Changed by Frank Nicholas on 15 Dec 2020