OMIA:002245-9615 : Calvarial hyperostotic syndrome in Canis lupus familiaris (dog)

In other species: lion

Categories: Craniofacial phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 302030 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific symbol: CHS

Molecular basis: Letko et al. (2020) whole-genome sequenced an affected American Staffordshire Terrier but were not able to identify a likely causal variant.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Letko et a. (2020): "persistent and sharp pain when opening mouth, painful swelling of the jaw, fever, and in some cases also severe pain of ulna and radius bones."

Breeds: American Staffordshire Terrier (Dog) (VBO_0200055), Bull Mastiff (Dog) (VBO_0200253), English Springer Spaniel (Dog) (VBO_0200497), obsolete Pit Bull Terrier (Dog) (VBO_0201022), Weimaraner (Dog) (VBO_0201401).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002245-9615: 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.

2020 Letko, A., Leuthard, F., Jagannathan, V., Corlazzoli, D., Matiasek, K., Schweizer, D., Hytönen, M.K., Lohi, H., Leeb, T., Drögemüller, C. :
Whole genome sequencing indicates heterogeneity of hyperostotic disorders in dogs. Genes (Basel) 11:163, 2020. Pubmed reference: 32033218. DOI: 10.3390/genes11020163.
2015 De Heer, N., Maltha, J.H.J., Van Garderen, E. :
Calvarial hyperostosis syndrome in a young Weimaraner dog Vlaams Diergeneeskundig Tijdschrift 84:154-157, 2015.
2012 Mathes, R.L., Holmes, S.P., Coleman, K.D., Radlinsky, M.A., Moore, P.A. :
Calvarial hyperostosis presenting as unilateral exophthalmos in a female English Springer Spaniel. Vet Ophthalmol 15:263-70, 2012. Pubmed reference: 22192474. DOI: 10.1111/j.1463-5224.2011.00969.x.
2011 Thompson, D.J., Rogers, W., Owen, M.C., Thompson, K.G. :
Idiopathic canine juvenile cranial hyperostosis in a Pit Bull Terrier. N Z Vet J 59:201-5, 2011. Pubmed reference: 21660851. DOI: 10.1080/00480169.2011.579556.
2006 McConnell, J.F., Hayes, A., Platt, S.R., Smith, K.C. :
Calvarial hyperostosis syndrome in two bullmastiffs. Vet Radiol Ultrasound 47:72-7, 2006. Pubmed reference: 16429988. DOI: 10.1111/j.1740-8261.2005.00108.x.
2000 Pastor, K.F., Boulay, J.P., Schelling, S.H., Carpenter, J.L. :
Idiopathic hyperostosis of the calvaria in five young bullmastiffs. J Am Anim Hosp Assoc 36:439-45, 2000. Pubmed reference: 10997521. DOI: 10.5326/15473317-36-5-439.

Edit History

  • Created by Frank Nicholas on 13 Feb 2020
  • Changed by Frank Nicholas on 18 Feb 2020