OMIA:000965-9615 : Syringomyelia in Canis lupus familiaris (dog)

In other species: domestic cat , horse , taurine cattle , rabbit

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 186700 (trait)

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: yes

Key variant known: no

Cross-species summary: Disorder in which a fluid-filled cyst (called a syrinx) forms within the spinal cord

Species-specific description: See also OMIA:001861-9615 : Chiari malformation Type I with syringomyelia in Canis lupus familiaris.

Mapping: Andrino et al. (2022): "A genome-wide association study (GWAS) was carried out comparing the whole genome sequences (WGS) from 12 [French Bulldog] dogs with SHM [syringohydromyelia] and 2 panels of 26 dogs (either older than 5 years and showing the absence of SHM or belonging to breeds not susceptible to SHM) to identify candidate genes associated with the development of SHM. Seven candidate genes were identified. Of these, five genes were determined to be involved in bone development (PLXNA2, HHAT, MBOAT2, ITGAV) and calcium homeostasis (HPCAL1). Although further validation is needed at the transcript level, it is worth highlighting the association of a possible pathogenic variant which generated a new intronic branch-site sequence in PLXNA2 (T/C, CFA7:7043294)."

Breeds: Brussels Griffon (Dog) (VBO_0200241), Cavalier King Charles Spaniel (Dog) (VBO_0200309), French Bulldog (Dog) (VBO_0201455), Pomeranian (Dog) (VBO_0201043), Samoyed (Dog) (VBO_0201174).
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:000965-9615: 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.

2024 Bach, M.B.T., Stougaard, C.L., Thøfner, M.S., Reimann, M.J., Westrup, U., Koch, J., Fredholm, M., Martinussen, T., Berendt, M., Olsen, L.H. :
Relationship between syringomyelia and myxomatous mitral valve disease in Cavalier King Charles spaniels. J Vet Intern Med 38:904-912, 2024. Pubmed reference: 38391152. DOI: 10.1111/jvim.17018.
De Frias, J.M., De Decker, S., De Stefani, A., Llabres-Diaz, F. :
Description and clinical relevance of the variable conformation of canine spinal arachnoid diverticula. Vet Radiol Ultrasound , 2024. Pubmed reference: 38572892. DOI: 10.1111/vru.13365.
Limpens, C., Smits, V.T.M., Fieten, H., Mandigers, P.J.J. :
The effect of MRI-based screening and selection on the prevalence of syringomyelia in the Dutch and Danish Cavalier King Charles Spaniels. Front Vet Sci 11:1326621, 2024. Pubmed reference: 38348108. DOI: 10.3389/fvets.2024.1326621.
Pedersen, T.R., Bach, M.B.T., Stougaard, C.L., Gredal, H., Rusbridge, C., Finnerup, N.B., Berendt, M. :
Clinical predictors of syringomyelia in Cavalier King Charles Spaniels with chiari-like malformation based on owners' observations. Acta Vet Scand 66:5, 2024. Pubmed reference: 38331821. DOI: 10.1186/s13028-024-00725-1.
Santifort, K.M., Carrera, I., Mandigers, P.J.J. :
Longitudinal assessment of syringomyelia in Pomeranians. Front Vet Sci 11:1364464, 2024. Pubmed reference: 38751802. DOI: 10.3389/fvets.2024.1364464.
2023 Lemke, L., Carlson, R., Flegel, T., Volk, A., Volk, H.A., Tipold, A., Nessler, J.N. :
Interleukin-31 in serum and cerebrospinal fluid of dogs with syringomyelia. BMC Vet Res 19:244, 2023. Pubmed reference: 37993920. DOI: 10.1186/s12917-023-03817-8.
Nitzsche, B., Schulze, S., Boltze, J., Schmidt, M.J. :
Reduced cingulate gyrus volume in Cavalier King Charles Spaniels with syringomyelia and neuropathic pain revealed by voxel-based morphometry: a pilot study. Front Neuroanat 17:1175953, 2023. Pubmed reference: 37529422. DOI: 10.3389/fnana.2023.1175953.
Santifort, K.M., Carrera, I., Bossens, K., Mandigers, P.J.J. :
Phenotypic characterization of Pomeranians with or without Chiari-like malformation and syringomyelia. Front Vet Sci 10:1320942, 2023. Pubmed reference: 38169622. DOI: 10.3389/fvets.2023.1320942.
2022 Andrino, S., Lorenzo, V., Dunner, S., Contreras, E., Cañón, J., Sevane, N. :
Syringohydromyelia in dogs: The genomic component underlying a complex neurological disease. Animals (Basel) 12:2622, 2022. Pubmed reference: 36230363. DOI: 10.3390/ani12192622.
Mortensen, D., Thoefner, M.S., Agerholm, J.S., Slumstrup, L., Jensen, T.S., Bjerrum, O.J., Berendt, M., Nyengaard, J.R. :
Dorsal horn volume loss and pain pathway changes in Cavalier King Charles Spaniels with syringomyelia, signs of pain, and phantom scratching. Pain 163:2365-2379, 2022. Pubmed reference: 35353770. DOI: 10.1097/j.pain.0000000000002630.
2021 Mondino, A., Delucchi, L., Moeser, A., Cerdá-González, S., Vanini, G. :
Sleep disorders in dogs: A pathophysiological and clinical review. Top Companion Anim Med 43:100516, 2021. Pubmed reference: 33556640. DOI: 10.1016/j.tcam.2021.100516.
2019 Thoefner, M.S., Westrup, U., Toft, N., Bjerrum, O.J., Berendt, M. :
Mechanical sensory threshold in Cavalier King Charles spaniels with syringomyelia-associated scratching and control dogs. Vet J 246:92-97, 2019. Pubmed reference: 30902196. DOI: 10.1016/j.tvjl.2019.01.011.
2018 Ancot, F., Lemay, P., Knowler, S.P., Kennedy, K., Griffiths, S., Cherubini, G.B., Sykes, J., Mandigers, P.J.J., Rouleau, G.A., Rusbridge, C., Kibar, Z. :
A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels. BMC Genet 19:16, 2018. Pubmed reference: 29566674. DOI: 10.1186/s12863-018-0605-z.
2017 Knowler, S.P., Kiviranta, A.M., McFadyen, A.K., Jokinen, T.S., La Ragione, R.M., Rusbridge, C. :
Craniometric analysis of the hindbrain and craniocervical junction of Chihuahua, Affenpinscher and Cavalier King Charles Spaniel dogs with and without syringomyelia secondary to Chiari-Like Malformation. PLoS One 12:e0169898, 2017. Pubmed reference: 28121988. DOI: 10.1371/journal.pone.0169898.
Wijnrocx, K., Van Bruggen, L.W.L., Eggelmeijer, W., Noorman, E., Jacques, A., Buys, N., Janssens, S., Mandigers, P.J.J. :
Twelve years of chiari-like malformation and syringomyelia scanning in Cavalier King Charles Spaniels in the Netherlands: Towards a more precise phenotype. PLoS One 12:e0184893, 2017. Pubmed reference: 28934242. DOI: 10.1371/journal.pone.0184893.
2015 Thøfner, M.S., Stougaard, C.L., Westrup, U., Madry, A.A., Knudsen, C.S., Berg, H., Jensen, C.S., Handby, R.M., Gredal, H., Fredholm, M., Berendt, M. :
Prevalence and Heritability of Symptomatic Syringomyelia in Cavalier King Charles Spaniels and Long-term Outcome in Symptomatic and Asymptomatic Littermates. J Vet Intern Med 29:243-250, 2015. Pubmed reference: 25308931. DOI: 10.1111/jvim.12475.
Wrzosek, M., Płonek, M., Nicpoń, J., Cizinauskas, S., Pakozdy, A. :
Retrospective multicenter evaluation of the "fly-catching syndrome" in 24 dogs: EEG, BAER, MRI, CSF findings and response to antiepileptic and antidepressant treatment. Epilepsy Behav 53:184-9, 2015. Pubmed reference: 26584225. DOI: 10.1016/j.yebeh.2015.10.013.
2014 Knowler, S.P., McFadyen, A.K., Freeman, C., Kent, M., Platt, S.R., Kibar, Z., Rusbridge, C. :
Quantitative analysis of Chiari-like malformation and syringomyelia in the Griffon Bruxellois dog. PLoS One 9:e88120, 2014. Pubmed reference: 24533070. DOI: 10.1371/journal.pone.0088120.
Mitchell, T.J., Knowler, S.P., van den Berg, H., Sykes, J., Rusbridge, C. :
Syringomyelia: determining risk and protective factors in the conformation of the Cavalier King Charles Spaniel dog. Canine Genet Epidemiol 1:9, 2014. Pubmed reference: 26401326. DOI: 10.1186/2052-6687-1-9.
2013 Driver, C.J., Watts, V., Bunck, A.C., Van Ham, L.M., Volk, H.A. :
Assessment of cerebellar pulsation in dogs with and without Chiari-like malformation and syringomyelia using cardiac-gated cine magnetic resonance imaging. Vet J 198:88-91, 2013. Pubmed reference: 23770398. DOI: 10.1016/j.tvjl.2013.05.017.
Fenn, J., Schmidt, M.J., Simpson, H., Driver, C.J., Volk, H.A. :
Venous sinus volume in the caudal cranial fossa in Cavalier King Charles spaniels with syringomyelia. Vet J 197:896-7, 2013. Pubmed reference: 23755937. DOI: 10.1016/j.tvjl.2013.05.007.
2011 Knowler, S.P., McFadyen, A.K., Rusbridge, C. :
Effectiveness of breeding guidelines for reducing the prevalence of syringomyelia. Vet Rec 169:681, 2011. Pubmed reference: 21998144. DOI: 10.1136/vr.100062.
Parker, J.E., Knowler, S.P., Rusbridge, C., Noorman, E., Jeffery, N.D. :
Prevalence of asymptomatic syringomyelia in Cavalier King Charles spaniels. Vet Rec 168:667, 2011. Pubmed reference: 21672954. DOI: 10.1136/vr.d1726.
2010 Lewis, T., Rusbridge, C., Knowler, P., Blott, S., Woolliams, JA. :
Heritability of syringomyelia in Cavalier King Charles spaniels. Vet J 183:345-7, 2010. Pubmed reference: 19914109. DOI: 10.1016/j.tvjl.2009.10.022.
Wolfe, KC., Poma, R. :
Syringomyelia in the Cavalier King Charles spaniel (CKCS) dog. Can Vet J 51:95-102, 2010. Pubmed reference: 20357949.
2009 Carruthers, H., Rusbridge, C., Dubé, M.P., Holmes, M., Jeffery, N. :
Association between cervical and intracranial dimensions and syringomyelia in the cavalier King Charles spaniel. J Small Anim Pract 50:394-8, 2009. Pubmed reference: 19689666. DOI: 10.1111/j.1748-5827.2009.00768.x.
Cerda-Gonzalez, S., Olby, NJ., Broadstone, R., McCullough, S., Osborne, JA. :
Characteristics of cerebrospinal fluid flow in Cavalier King Charles Spaniels analyzed using phase velocity cine magnetic resonance imaging. Vet Radiol Ultrasound 50:467-76, 2009. Pubmed reference: 19788029.
Mandigers, P., Rusbridge, C. :
[Chiari-like malformation--syringomyelia in the Cavalier King Charles Spaniel] Tijdschr Diergeneeskd 134:746-50, 2009. Pubmed reference: 19911737.
Park, C., Kang, BT., Yoo, JH., Park, HM. :
Syringomyelia in three small breed dogs secondary to Chiari-like malformation: clinical and diagnostic findings. J Vet Sci 10:365-7, 2009. Pubmed reference: 19934606. DOI: 10.4142/jvs.2009.10.4.365.
Rusbridge, C., Knowler, SP., Pieterse, L., McFadyen, AK. :
Chiari-like malformation in the Griffon Bruxellois. J Small Anim Pract 50:386-93, 2009. Pubmed reference: 19689665. DOI: 10.1111/j.1748-5827.2009.00744.x.
2008 Chandler, K., Volk, H., Rusbridge, C., Jeffery, N. :
Syringomyelia in cavalier King Charles spaniels. Vet Rec 162:324, 2008. Pubmed reference: 18326849.
Kitagawa, M., Ueno, H., Watanabe, S., Igarashi, O., Uzuka, Y., Kanayama, K., Sakai, T. :
Clinical improvement in two dogs with hydrocephalus and syringohydromyelia after ventriculoperitoneal shunting. Aust Vet J 86:36-42, 2008. Pubmed reference: 18271823. DOI: 10.1111/j.1751-0813.2007.00247.x.
Rusbridge, C., Jeffery, ND. :
Pathophysiology and treatment of neuropathic pain associated with syringomyelia. Vet J 175:164-72, 2008. Pubmed reference: 17317245. DOI: 10.1016/j.tvjl.2006.12.007.
Stalin, CE., Rusbridge, C., Granger, N., Jeffery, ND. :
Radiographic morphology of the cranial portion of the cervical vertebral column in Cavalier King Charles Spaniels and its relationship to syringomyelia. Am J Vet Res 69:89-93, 2008. Pubmed reference: 18167092. DOI: 10.2460/ajvr.69.1.89.
2007 Rusbridge, C., Carruthers, H., Dubé, M.P., Holmes, M., Jeffery, N.D. :
Syringomyelia in cavalier King Charles spaniels: the relationship between syrinx dimensions and pain. J Small Anim Pract 48:432-6, 2007. Pubmed reference: 17608656. DOI: 10.1111/j.1748-5827.2007.00344.x.
2006 Jung, DI., Park, C., Kang, BT., Kim, JW., Kim, HJ., Lim, CY., Jeong, SW., Park, HM. :
Acquired cervical syringomyelia secondary to a brainstem meningioma in a maltese dog. J Vet Med Sci 68:1235-8, 2006. Pubmed reference: 17146188.
MacKillop, E., Schatzberg, SJ., de Lahunta, A. :
Intracranial epidermoid cyst and syringohydromyelia in a dog. Vet Radiol Ultrasound 47:339-44, 2006. Pubmed reference: 16863050.
Rusbridge, C., Greitz, D., Iskandar, BJ. :
Syringomyelia: current concepts in pathogenesis, diagnosis, and treatment. J Vet Intern Med 20:469-79, 2006. Pubmed reference: 16734077.
Rusbridge, C., Knowler, SP. :
Coexistence of occipital dysplasia and occipital hypoplasia/syringomyelia in the cavalier King Charles spaniel. J Small Anim Pract 47:603-6, 2006. Pubmed reference: 17004953. DOI: 10.1111/j.1748-5827.2006.00048.x.
2005 Hasegawa, T., Taura, Y., Kido, H., Shibazaki, A., Katamoto, H. :
Surgical management of combined hydrocephalus, syringohydromyelia, and ventricular cyst in a dog. J Am Anim Hosp Assoc 41:267-72, 2005. Pubmed reference: 15995165.
Rusbridge, C., Knowler, P., Rouleau, GA., Minassian, BA., Rothuizen, J. :
Inherited occipital hypoplasia/syringomyelia in the cavalier King Charles spaniel: experiences in setting up a worldwide DNA collection. J Hered 96:745-9, 2005. Pubmed reference: 15958797. DOI: 10.1093/jhered/esi074.
Takagi, S., Kadosawa, T., Ohsaki, T., Hoshino, Y., Okumura, M., Fujinaga, T. :
Hindbrain decompression in a dog with scoliosis associated with syringomyelia. J Am Vet Med Assoc 226:1359-63, 1347, 2005. Pubmed reference: 15844429.
2004 Rusbridge, C., Knowler, SP. :
Inheritance of occipital bone hypoplasia (Chiari type I malformation) in Cavalier King Charles Spaniels. J Vet Intern Med 18:673-8, 2004. Pubmed reference: 15515584.
2000 Bagley, R.S., Gavin, P.R., Silver, G.M., Moore, M.P., Kippenes, H., Connors, R. :
Syringomyelia and hydromyelia in dogs and cats Compendium on Continuing Education for the Practicing Veterinarian 22:471-479, 2000.
Rusbridge, C., MacSweeny, J.E., Davies, J.V., Chandler, K., Fitzmaurice, S.N., Dennis, R., Cappello, R., Wheeler, S.J. :
Syringohydromyelia in Cavalier King Charles spaniels Journal of the American Animal Hospital Association 36:34-41, 2000. Pubmed reference: 10667404.
Taga, A., Taura, Y., Nakaichi, M., Wada, N., Hasegawa, T. :
Magnetic resonance imaging of syringomyelia in five dogs Journal of Small Animal Practice 41:362-365, 2000. Pubmed reference: 11002940.
1996 Itoh, T., Nishimura, R., Matsunaga, S., Kodosawa, T., Mochizuki, M., Sasaki, N. :
Syringomyelia and hydrocephalus in a dog Journal of the American Veterinary Medical Association 209:934 ff., 1996.
1973 Furneaux, R.W., Doige, C.E., Kaye, M.M. :
Syringomyelia and spina bifida occulta in a Samoyed dog. Can Vet J 14:317-21, 1973. Pubmed reference: 4588835.
1965 McGrath, J.T. :
Spinal dysraphism in the dog, with comments on syringomylia Pathologia Veterinaria 2:1-36 (Supplement), 1965. Pubmed reference: 5893238.

Edit History

  • Created by Frank Nicholas on 25 Oct 2010
  • Changed by Imke Tammen2 on 27 Aug 2021
  • Changed by Imke Tammen2 on 24 May 2022
  • Changed by Imke Tammen2 on 25 Nov 2022
  • Changed by Imke Tammen2 on 10 Feb 2024
  • Changed by Imke Tammen2 on 17 May 2024