OMIA 001861-9615 : Chiari malformation Type I with syringomyelia in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 118420 (trait)

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: yes

Key variant known: no

Mapping: From a GWAS conducted on 50 affected and 24 non-affected Griffon Bruxellois Dogs, each genotyped with the Illumina CanineHD Beadchip (yielding 74,399 informative SNPs), Lemay et al. (2014) identified putative QTL on each of five chromosomes, namely CFA2, CFA9, CFA12, CFA14 and CFA24. The authors noted that the CFA2 QTL includes a comparative functional candidate gene, namely Sall-1, mutations in which give rise to a somewhat similar disorder in humans (Townes-Brocks syndrome).

Control: Knowler et al (2016) investigated the "feasibility of crossbreeding a brachycephalic CM affected GB with a mesaticephalic normal Australian terrier and then backcrossing to produce individuals free of the malformation and regain GB breed characteristics" and concluded "that by outcrossing breed types and with careful selection of appropriate conformation characteristics in the first generation, it is possible to regain the GB breed standard and reduce the degree of CM".


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.
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.
Hechler, A.C., Moore, S.A. :
Understanding and Treating Chiari-like Malformation and Syringomyelia in Dogs. Top Companion Anim Med 33:1-11, 2018. Pubmed reference: 29793722. DOI: 10.1053/j.tcam.2018.03.002.
Knowler, S.P., Galea, G.L., Rusbridge, C. :
Morphogenesis of Canine Chiari Malformation and Secondary Syringomyelia: Disorders of Cerebrospinal Fluid Circulation. Front Vet Sci 5:171, 2018. Pubmed reference: 30101146. DOI: 10.3389/fvets.2018.00171.
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.
2016 Knowler, S.P., v/d Berg, H., McFadyen, A., La Ragione, R.M., Rusbridge, C. :
Inheritance of Chiari-Like Malformation: Can a Mixed Breeding Reduce the Risk of Syringomyelia? PLoS One 11:e0151280, 2016. Pubmed reference: 27008271. DOI: 10.1371/journal.pone.0151280.
Motta, L. :
Does medical therapy influence the size of the syrinx in dogs with Chiari-like malformation/syringohydromyelia complex? J Small Anim Pract 57:278, 2016. Pubmed reference: 27045274. DOI: 10.1111/jsap.12468.
Sanchis-Mora, S., Pelligand, L., Thomas, C.L., Volk, H.A., Abeyesinghe, S.M., Brodbelt, D.C., Church, D.B., Thomson, P.C., McGreevy, P.D., O'Neill, D.G. :
Dogs attending primary-care practice in England with clinical signs suggestive of Chiari-like malformation/syringomyelia. Vet Rec :, 2016. Pubmed reference: 27534983. DOI: 10.1136/vr.103651.
2015 Plessas, I.N., Volk, H.A., Rusbridge, C., Vanhaesebrouck, A.E., Jeffery, N.D. :
Comparison of gabapentin versus topiramate on clinically affected dogs with Chiari-like malformation and syringomyelia. Vet Rec 177:288, 2015. Pubmed reference: 26269418. DOI: 10.1136/vr.103234.
Stalin, C. :
Treating Chiari-like malformation and syringomyelia in dogs. Vet Rec 177:286-7, 2015. Pubmed reference: 26385147. DOI: 10.1136/vr.h4893.
2014 Freeman, A.C., Platt, S.R., Kent, M., Huguet, E., Rusbridge, C., Holmes, S. :
Chiari-like malformation and syringomyelia in American Brussels Griffon dogs. J Vet Intern Med 28:1551-9, 2014. Pubmed reference: 25145262. DOI: 10.1111/jvim.12421.
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.
Lemay, P., Knowler, S.P., Bouasker, S., Nédélec, Y., Platt, S., Freeman, C., Child, G., Barreiro, L.B., Rouleau, G.A., Rusbridge, C., Kibar, Z. :
Quantitative Trait Loci (QTL) Study Identifies Novel Genomic Regions Associated to Chiari-Like Malformation in Griffon Bruxellois Dogs. PLoS One 9:e89816, 2014. Pubmed reference: 24740420. DOI: 10.1371/journal.pone.0089816.
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 :, 2013. Pubmed reference: 23770398. DOI: 10.1016/j.tvjl.2013.05.017.
Driver, C.J., Volk, H.A., Rusbridge, C., Van Ham, L.M. :
An update on the pathogenesis of syringomyelia secondary to Chiari-like malformations in dogs. Vet J :, 2013. Pubmed reference: 23938004. DOI: 10.1016/j.tvjl.2013.07.014.
Rusbridge, C. :
Chiari–like malformation and syringomyelia European Journal Companian Animal Practice 23:70-89, 2013.
2012 Driver, C.J., De Risio, L., Hamilton, S., Rusbridge, C., Dennis, R., McGonnell, I.M., Volk, H.A. :
Changes over time in craniocerebral morphology and syringomyelia in cavalier King Charles spaniels with Chiari-like malformation. BMC Vet Res 8:215, 2012. Pubmed reference: 23136935. DOI: 10.1186/1746-6148-8-215.
Plessas, I.N., Rusbridge, C., Driver, C.J., Chandler, K.E., Craig, A., McGonnell, I.M., Brodbelt, D.C., Volk, H.A. :
Long-term outcome of Cavalier King Charles spaniel dogs with clinical signs associated with Chiari-like malformation and syringomyelia. Vet Rec 171:501, 2012. Pubmed reference: 23100307. DOI: 10.1136/vr.100449.
Plessas, J. :
Management of pain in dogs with Chiari-like malformation/syringomyelia. Vet Rec 170:82, 2012. Pubmed reference: 22267233. DOI: 10.1136/vr.e494.
Rutherford, L., Wessmann, A., Rusbridge, C., McGonnell, I.M., Abeyesinghe, S., Burn, C., Volk, H.A. :
Questionnaire-based behaviour analysis of Cavalier King Charles spaniels with neuropathic pain due to Chiari-like malformation and syringomyelia. Vet J :, 2012. Pubmed reference: 22738740. DOI: 10.1016/j.tvjl.2012.05.018.
Shaw, T.A., McGonnell, I.M., Driver, C.J., Rusbridge, C., Volk, H.A. :
Increase in cerebellar volume in Cavalier King Charles Spaniels with Chiari-like malformation and its role in the development of syringomyelia. PLoS One 7:e33660, 2012. Pubmed reference: 22506005. DOI: 10.1371/journal.pone.0033660.
2011 Whittaker, D.E., English, K., McGonnell, I.M., Volk, H.A. :
Evaluation of cerebrospinal fluid in Cavalier King Charles Spaniel dogs diagnosed with Chiari-like malformation with or without concurrent syringomyelia. J Vet Diagn Invest 23:302-7, 2011. Pubmed reference: 21398451.
2010 Driver, C.J., Rusbridge, C., Cross, H.R., McGonnell, I., Volk, H.A. :
Association between Chiari-like malformation and syringomyelia in cavalier King Charles spaniels Veterinary Record 167:306 only, 2010. DOI: 10.1136/vr.167.8.306-a.
2009 Cross, H.R., Cappello, R., Rusbridge, C. :
Comparison of cerebral cranium volumes between cavalier King Charles spaniels with Chiari-like malformation, small breed dogs and Labradors. J Small Anim Pract 50:399-405, 2009. Pubmed reference: 19689667. DOI: 10.1111/j.1748-5827.2009.00799.x.
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.
Platt, SR., Kent, M., Schatzberg, SJ. :
Does size matter? The continuing riddle of Chiari and syringomyelia. J Small Anim Pract 50:383-4, 2009. Pubmed reference: 19689664. DOI: 10.1111/j.1748-5827.2009.00804.x.
2008 Couturier, J., Rault, D., Cauzinille, L. :
Chiari-like malformation and syringomyelia in normal cavalier King Charles spaniels: a multiple diagnostic imaging approach. J Small Anim Pract 49:438-43, 2008. Pubmed reference: 18631225. DOI: 10.1111/j.1748-5827.2008.00578.x.
2007 Cappello, R., Rusbridge, C. :
Report from the Chiari-Like Malformation and Syringomyelia Working Group round table. Vet Surg 36:509-12, 2007. Pubmed reference: 17614933. DOI: 10.1111/j.1532-950X.2007.00298.x.
Rusbridge, C. :
Chiari-like malformation with syringomyelia in the Cavalier King Charles spaniel: long-term outcome after surgical management. Vet Surg 36:396-405, 2007. Pubmed reference: 17614920. DOI: 10.1111/j.1532-950X.2007.00285.x.
2006 Kim, H., Itamoto, K., Watanabe, M., Nakaichi, M., Taura, Y. :
Application of ventriculoperitoneal shunt as a treatment for hydrocephalus in a dog with syringomyelia and Chiari I malformation. J Vet Sci 7:203-6, 2006. Pubmed reference: 16645349.
2003 Rusbridge, C., Knowler, S.P. :
Hereditary aspects of occipital bone hypoplasia and syringomyelia (Chiari type I malformation) in cavalier King Charles spaniels. Vet Rec 153:107-12, 2003. Pubmed reference: 12918827.
2000 Churcher, R.K., Child, G. :
Chiari 1/syringomyelia complex in a King Charles Spaniel Australian Veterinary Journal 78:92-95, 2000. Pubmed reference: 10736666.
1997 Rusbridge, C. :
Persistent scratching in Cavalier King Charles spaniels. Vet Rec 141:179, 1997. Pubmed reference: 9290199.

Edit History

  • Created by Frank Nicholas on 20 Jun 2013
  • Changed by Frank Nicholas on 22 Apr 2014
  • Changed by Frank Nicholas on 26 Apr 2016