OMIA:000147-9913 : Brachygnathia in Bos taurus (taurine cattle)

In other species: dog , ass (donkey) , horse , pig , llama , white-tailed deer , giraffe , sheep , alpaca

Categories: Skeleton phene (incl. short stature & teeth) , Craniofacial phene

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Congenital abnormal shortness of the mandible (lower jaw), resulting in protrusion of the maxilla (upper jaw).

Species-specific name: Lethal brachygnathia trisomy syndrome

Species-specific description: Some forms of brachygnathia in cattle are associated with trisomy 18; it is the only documented example of a recognisable disorder being apparently due to autosomal trisomy in domestic animals. Widmer et al. (2023) report a risk locus on BTA5 to be associated with brachygnathia inferior in Brown Swiss cattle - see OMIA:002759-9913 : Brachygnathia, WNT10B-related.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000147-9913: 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.

1978 Stur, I., Pinsker, W., Mayr, B. :
Occurrence of brachygnathia inferior in an Austrian Simmental breeding area Wiener Tierarztliche Monatsschrift 65:200-202, 1978.
1974 Herzog, A. :
Autosomal trisomia in lethal brachygnathia of cattle (bovine trisomia brachygnathia syndrome) Deutsche Tierarztliche Wochenschrift 81:78-80, 1974. Pubmed reference: 4596257.
1970 Hohn, H., Herzog, A. :
Two additional cases of autosomal trisomy in calves with brachygnathia inferior and other aberrations [German] Giessener Beitr. Erbpathol. Zuchthyg. 3:1 only, 1970.
1969 Mori, M., Sasaki, M., Makino, S., Ishikawa, T., Kawata, K. :
Autosomal trisomy in a malformed newborn calf Proceedings of the Japanese Academy of Science 45:955-959, 1969.
1968 Herzog, A, Hohn, H. :
Autosomale trisomie bei einem Kalb mit Brachygnathia inferior und Ascites congenitus Deutsch Tierartzliche Wochenschr 75:604-606, 1968.
1939 Annett, H.E. :
A note on a new recessive lethal in cattle Journal of Genetics 37:301-302, 1939.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 30 Aug 2023
  • Changed by Imke Tammen2 on 08 Feb 2024