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Ehlers-Danlos Syndrome (Discovered in the Labrador Retriever)

Ehlers-Danlos Syndrome (EDS) is an inherited connective tissue disorder characterized by skin that is easily stretched, fragile, and easy to bruise, as well as increased flexibility of joints. The associated genetic variant has been identified in the Labrador Retriever.

Key Signs

Fragile skin, Skin tearing, Bruising, Poor wound healing, Hypermobile joints

Age of Onset

At birth

Present at birth

Inheritance

Autosomal Dominant

For autosomal dominant disorders, dogs with one or two copies of the disease variant are at risk of developing the condition. Inheriting two copies of the risk variant may make the risk higher or the condition more severe. They may produce puppies affected with the disorder if bred.

Likelihood of the Condition

Moderate likelihood

At risk dogs may show signs of this disease in their lifetime, although some will not develop the condition due to absence of additional risk factors.

What to Do

Here’s how to care for a dog with EDS

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 EDS

Ehlers-Danlos Syndromes are a group of inherited connective tissue disorders characterized by skin hyperextensibility, tissue fragility and generalized joint hypermobility. Affected dogs can show clinical signs of EDS from a young age. Initial signs may be thin, hyperextensible skin that tears and bruises easily. Lacerations can present following even minor trauma, and affected dogs tend to demonstrate poor wound healing. Additional signs may include hypermobile joints and seroma-like swellings following trauma. Affected dogs can otherwise appear clinically healthy and have normal skeletal development.

Treatment is focused on symptomatic and supportive care dependent on the severity of clinical signs. Owners may choose to restrict certain activities that could lead to damaging the skin. Welfare should be closely monitored, as humane euthanasia is often elected for more severely affected dogs.

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 disorder is autosomal dominant, meaning dogs with one or two copies of the Ehlers-Danlos Syndrome (Discovered in the Labrador Retriever) variant are at an elevated risk for being diagnosed with this condition. Use of dogs with one or two copies of the Ehlers-Danlos Syndrome (Discovered in the Labrador Retriever) variant are not recommended for breeding, as there is a risk that the resulting litter will contain affected puppies. For example, if a dog with one copy of the Ehlers-Danlos Syndrome variant is bred with a clear dog with no copies of the Ehlers-Danlos Syndrome variant, about half of the puppies will have one copy and half will have no copies of the variant. Please note: It is possible that clinical signs similar to the ones associated with this Ehlers-Danlos Syndrome variant could develop due to a different genetic or clinical cause.

Technical Details

Gene COL5A1
Variant Deletion
Chromosome 9
Coordinate 50,806,169

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Bauer, A., Bateman, J.F., Lamandé, S.R., Hanssen, E., Kirejczyk, S.G.M., Yee, M., … Bateman, F.L. (2019). Identification of two independent COL5A1 variants in dogs with Ehlers-Danlos syndrome. Genes (Basel), 10(10), 731. View the article