OMIA 000236-9615 : Craniomandibular osteopathy, generic in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 114000

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: yes

Key variant known: no

Cross-species summary: See also OMIA 002244 : Craniomandibular osteopathy, SLC37A2-related

Species-specific symbol: CMO

Inheritance: Padgett and Mostosky (1965) concluded autosomal recessive inheritance in the West Highland White terrier breed.

Vagt and Distl (2108) reported evidence for multifactorial inheritance of this disorder in the Deutsch Drahthaar breed.

Molecular basis: Letko et al. (2020) discovered two likely causal variants for this disorder "In an Australian Terrier, a heterozygous missense variant in the COL1A1 gene (c.1786G>A; p.(Val596Ile)) . . . [and] in a Weimaraner, a heterozygous frameshift variant in SLC35D1 (c.1021_1024delTCAG; p.(Ser341ArgfsTer22))." The authors described the two variants as being "of uncertain significance with less evidence for pathogenicity [but occurring] in compelling functional candidate genes (COL1A1 and SLC35D1)."

Breeds: Airedale Terrier, Akita, Australian Terrier, Basset Hound, Boxer, Bull Mastiff, Cairn Terrier, Curly-coated retriever, Doberman Pinscher, English Bulldog, German Wirehaired Pointer, Great Dane, Labrador Retriever, Old English Sheepdog, Pit Bull Terrier, Pyrenean Mountain Dog, Scottish Terrier, Shetland Sheepdog, Weimaraner, West Highland White terrier.

References


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:, 2020. Pubmed reference: 32033218. DOI: 10.3390/genes11020163.
2018 Vagt, J., Distl, O. :
Complex segregation analysis of craniomandibular osteopathy in Deutsch Drahthaar dogs. Vet J 231:30-32, 2018. Pubmed reference: 29429484. DOI: 10.1016/j.tvjl.2017.11.008.
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.
2010 Ratterree, W.O., Glassman, M.M., Driskell, E.A., Havig, M.E. :
Craniomandibular osteopathy with a unique neurological manifestation in a young Akita. J Am Anim Hosp Assoc 47:e7-12, 2010. Pubmed reference: 21189419. DOI: 10.5326/JAAHA-MS-5464.
2002 Huchkowsky, S.L. :
Craniomandibular osteopathy in a bullmastiff. Can Vet J 43:883-5, 2002. Pubmed reference: 12497967.
LaFond, E., Breur, G.J., Austin, C.C. :
Breed susceptibility for developmental orthopedic diseases in dogs Journal of the American Animal Hospital Association 38:467-477, 2002. Pubmed reference: 12220032.
1998 Franch, J., Cesari, J.R., Font, J. :
Craniomandibular osteopathy in two Pyrenean mountain dogs Veterinary Record 142:455-459, 1998. Pubmed reference: 9602514.
1995 Taylor, S.M., Remedios, A., Myers, S. :
Craniomandibular osteopathy in a Shetland sheepdog. Can Vet J 36:437-9, 1995. Pubmed reference: 7585421.
Watson, A.D.J., Adams, W.M., Thomas, C.B. :
Craniomandibular osteopathy in dogs Compendium on Continuing Education for the Practicing Veterinarian 17:911, 1995.
1992 Lindt, F., Gagnebin, L. :
[What is your diagnosis? Craniomandibular osteopathy]. Schweiz Arch Tierheilkd 134:49-51, 1992. Pubmed reference: 1553519.
1983 Alexander, J.W. :
Selected skeletal dysplasias: craniomandibular osteopathy, multiple cartilaginous exostoses, and hypertrophic osteodystrophy. Vet Clin North Am Small Anim Pract 13:55-70, 1983. Pubmed reference: 6346655.
1982 Hathcock, J.T. :
Craniomandibular osteopathy in an English Bulldog--. J Am Vet Med Assoc 181:389, 1982. Pubmed reference: 7118716.
1979 Thornburg, L.P. :
Infantile cortical hyperostosis (Caffey-Silverman syndrome). Animal model: craniomandibular osteopathy in the canine. Am J Pathol 95:575-8, 1979. Pubmed reference: 377993.
1978 Schulz, S. :
A case of craniomandibular osteopathy in a Boxer. J Small Anim Pract 19:749-57, 1978. Pubmed reference: 723240.
1976 Burk, R.L., Broadhurst, J.J. :
Craniomandibular osteopathy in a Great Dane. J Am Vet Med Assoc 169:635-6, 1976. Pubmed reference: 965287.
1975 Keppler, A., Boom, J. :
[What is your diagnosis]. Tijdschr Diergeneeskd 100:563-5, 1975. Pubmed reference: 1154348.
Watson, A.D., Huxtable, C.R., Farrow, B.R. :
Craniomandibular osteopathy in Doberman Pinschers. J Small Anim Pract 16:11-9, 1975. Pubmed reference: 1117702.
1969 Battershell, D. :
Craniomandibular osteopathy. J Am Vet Med Assoc 155:1735-6, 1969. Pubmed reference: 5391227.
Pool, R.R., Leighton, R.L. :
Craniomandibular osteopathy in a dog. J Am Vet Med Assoc 154:657-60, 1969. Pubmed reference: 5812899.
1967 Gehring, H., Brass, W. :
[The "craniomandibular osteopathy" in the dog]. Dtsch Tierarztl Wochenschr 74:546-7, 1967. Pubmed reference: 5631876.
1966 Watkins, J.D., Bradley, R. :
Craniomandibular osteopathy in a labrador puppy. Vet Rec 79:262-4, 1966. Pubmed reference: 6009030.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 13 Nov 2013
  • Changed by Frank Nicholas on 26 May 2016
  • Changed by Frank Nicholas on 15 Feb 2018
  • Changed by Frank Nicholas on 11 Feb 2020
  • Changed by Frank Nicholas on 12 Feb 2020