Spondylocostal Dysostosis

Spondylocostal Dysostosis is a developmental disease that leads to skeletal abnormalities often noted at birth.

Key Signs

Stillbirth or death soon after birth, Short trunk, Skeletal malformations, Rib anomalies

Age of Onset

At birth

Present at birth

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with Spondylocostal Dysostosis

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about Spondylocostal Dysostosis

Spondylocostal dysostosis causes severe malformations of the axial skeleton. Affected puppies are stillborn or die soon after birth. This is presumably caused by impaired respiratory function resulting from truncal shortening and rib fusion. Affected puppies have a comma-like appearance due to reduction of the hindquarters, malformations and fusions of the ribs, and reduced body length. Some affected puppies have other developmental anomalies upon exam.

Humane euthanasia for affected dogs is often elected.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the Spondylocostal Dysostosis mutation can be safely bred with a clear dog with no copies of the Spondylocostal Dysostosis mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the Spondylocostal Dysostosis mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the Spondylocostal Dysostosis mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene	HES7
Variant	Deletion
Chromosome	5
Coordinate	32,945,846

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Willet, C. E., Makara, M., Reppas, G., Tsoukalas, G., Malik, R., Haase, B., & Wade, C. M. (2015). Canine disorder mirrors human disease: Exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature schnauzer dogs. PLoS ONE, 10(2), 1–13. View the article