OMIA:001551-9685 : Brachycephaly in Felis catus (domestic cat)

In other species: brown trout , dog , pig , taurine cattle , goat , rabbit

Categories: Craniofacial phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 112263 (gene) , 607223 (gene) , 125400 (trait)

Mendelian trait/disorder: unknown

Mode of inheritance: Multifactorial

Considered a defect: yes

Key variant is published: no

Species-specific description: Information relating to the ALX1 variant, which causes in heterozygous animals an extreme brachycephalic phenotype (known as “Contemporary” Burmese) and in homozygous animals lethal frontonasal dysplasia (Lyons et al., 2016) has previously been listed here. The inforamtion has been moved to 'OMIA:002717-9685 : Frontonasal dysplasia, ALX1-related in Felis catus' [13/06/2023].

Mapping: Lyons et al. (2016) reported that a form of extreme brachycephalia and frontonasal dysplasia in Burmese cats mapped to chromosome B4. Details are provided at 'OMIA:002717-9685 : Frontonasal dysplasia, ALX1-related in Felis catus'. Bertolini et al. (2016) identified four ~1Mb regions of homozygosity peculiar to Persian cats (which are characterised by an extreme form of brachycephaly), one of which contains two genes "CHL1 and CNTN6 known to determine face shape modification in humans".

Clinical features: Brachycephaly in cats is characterised by a shortened head length (Gundemir et al. 2023). The shortening of the muzzle typically creates a 'squashed nose' appearance. Clinical features may include respiratory difficulties and airway obstructions due to normal sized nasal soft tissue structures in a reduced size cranium, kinking of the nasolacrimal ducts, and potential ophthalmic, neurological, dermatological, and reproductive issues - particularly in relation to abnormally-shaped skulls having difficulty passing through the birth canal (Schlueter et al., 2009). IT thanks DVM student Mon Wink, who provided the basis of this contribution in May 2023.

Breeds: British Shorthair (Cat) (VBO_0100052), Burmese (Cat) (VBO_0100053), Exotic Shorthair (Cat) (VBO_0100096), Himalayan (Cat) (VBO_0100117), Persian (Cat) (VBO_0100188), Scottish Fold (Cat) (VBO_0100209).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001551-9685: 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 Dehesa-Santos, A., Faria-Teixeira, M.C., Iglesias-Linares, A. :
Skeletal Class III phenotype: Link between animal models and human genetics: A scoping review. J Exp Zool B Mol Dev Evol 342:21-44, 2024. Pubmed reference: 38108095. DOI: 10.1002/jez.b.23230.
Morel, E., Malineau, L., Venet, C., Gaillard, V., Péron, F. :
Prioritization of appearance over health and temperament is detrimental to the welfare of purebred dogs and cats. Animals (Basel) 14:1003, 2024. Pubmed reference: 38612242. DOI: 10.3390/ani14071003.
2023 Berteselli, G.V., Palestrini, C., Scarpazza, F., Barbieri, S., Prato-Previde, E., Cannas, S. :
Flat-faced or non-flat-faced cats? That is the question. Animals (Basel) 13:206, 2023. Pubmed reference: 36670746. DOI: 10.3390/ani13020206.
Gleason, H.E., Phillips, H., Fries, R., Keating, S., Hamel, P., McCoy, A. :
Ala vestibuloplasty improves cardiopulmonary and activity-related parameters in brachycephalic cats. Vet Surg 52:575-586, 2023. Pubmed reference: 36882053. DOI: 10.1111/vsu.13948.
Gündemir, O., Szara, T., Yalin, E.E., Karabagli, M., Mutlu, Z., Yilmaz, O., Büyükünal, S.K., Blagojevic, M., Parés-Casanova, P.M. :
Examination of shape variation of the skull in British Shorthair, Scottish Fold, and Van cats. Animals (Basel) 13:614, 2023. Pubmed reference: 36830403. DOI: 10.3390/ani13040614.
Gundemir, O., Akcasiz, Z.N., Yilmaz, O., Hadžiomerović, N. :
Radiographic analysis of skull in Van Cats, British Shorthairs and Scottish Folds. Anat Histol Embryol 52:512-518, 2023. Pubmed reference: 36793158. DOI: 10.1111/ahe.12909.
2021 Alhaddad, H., Abdi, M., Lyons, L.A. :
Patterns of allele frequency differences among domestic cat breeds assessed by a 63K SNP array. PLoS One 16:e0247092, 2021. Pubmed reference: 33630878. DOI: 10.1371/journal.pone.0247092.
Geiger, M., Schoenebeck, J.J., Schneider, R.A., Schmidt, M.J., Fischer, M.S., Sánchez-Villagra, M.R. :
Exceptional changes in skeletal anatomy under domestication: The case of brachycephaly. Integr Org Biol 3:obab023, 2021. Pubmed reference: 34409262. DOI: 10.1093/iob/obab023.
2016 Anon. :
Brachycephaly: an issue for cats as well as dogs. Vet Rec 179:371, 2016. Pubmed reference: 27738208. DOI: 10.1136/vr.i5507.
Bertolini, F., Gandolfi, B., Kim, E.S., Haase, B., Lyons, L.A., Rothschild, M.F. :
Evidence of selection signatures that shape the Persian cat breed. Mamm Genome 27:144-55, 2016. Pubmed reference: 26956354. DOI: 10.1007/s00335-016-9623-1.
Bertolini, F., Gandolfi, B., Kim, E.S., Haase, B., Lyons, L.A., Rothschild, M.F. :
Erratum to: Evidence of selection signatures that shape the Persian cat breed. Mamm Genome 27:156-157, 2016. Pubmed reference: 27007993. DOI: 10.1007/s00335-016-9626-y.
Lyons, L.A., Erdman, C.A., Grahn, R.A., Hamilton, M.J., Carter, M.J., Helps, C.R., Alhaddad, H., Gandolfi, B. :
Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol 409:451-8, 2016. Pubmed reference: 26610632. DOI: 10.1016/j.ydbio.2015.11.015.
2010 Oechtering, G.U., Schlüter, C., Lippert, J.P. :
[Brachycephaly in dog and cat: a "human induced" obstruction of the upper airways]. Pneumologie 64:450-2, 2010. Pubmed reference: 20632241. DOI: 10.1055/s-0030-1255513.
2009 Schlueter, C., Budras, K.D., Ludewig, E., Mayrhofer, E., Koenig, H.E., Walter, A., Oechtering, G.U. :
Brachycephalic feline noses: CT and anatomical study of the relationship between head conformation and the nasolacrimal drainage system. J Feline Med Surg 11:891-900, 2009. Pubmed reference: 19857852. DOI: 10.1016/j.jfms.2009.09.010.
2003 Breit, S., Künzel, W., Oppel, M. :
The course of the nasolacrimal duct in brachycephalic cats. Anat Histol Embryol 32:224-7, 2003. Pubmed reference: 12919073. DOI: 10.1046/j.1439-0264.2003.00464.x.

Edit History

  • Created by Frank Nicholas on 02 Apr 2016
  • Changed by Frank Nicholas on 02 Apr 2016
  • Changed by Frank Nicholas on 19 May 2016
  • Changed by Frank Nicholas on 11 Jun 2020
  • Changed by Imke Tammen2 on 02 Feb 2023
  • Changed by Imke Tammen2 on 13 Jun 2023
  • Changed by Imke Tammen2 on 09 Apr 2024
  • Changed by Imke Tammen2 on 21 Jun 2024