Ehlers-Danlos Syndrome (EDS)

Affected puppies have very elastic and stretchy skin and hyper-mobile joints. They are injury prone and skin can be severely torn following even minor injuries.

Signs are first recognized in puppies.

Genetic testing, clinical signs, and skin biopsy can be used to diagnose this condition.

Unfortunately, there is no treatment for this condition.

Talk to your vet about your dog’s Ehlers-Danlos syndrome result so you can plan appropriate care and monitoring.

Handle your dog gently and avoid rough play or activities that could lead to cuts or bruises, such as dog parks, outdoor hikes, or running through dense brush.

Keep their environment safe by padding sharp edges, using soft bedding, and preventing jumping from high surfaces.

If wounds occur, seek veterinary attention promptly, as the skin may be slow to heal or tear easily.

This variant was first described in the Labrador Retriever. Genetic analysis of the parents confirmed this was a de novo mutation, which means that the mutation spontaneously occurred in this individual and was not inherited from the parents.

Penetrance: This variant is inherited in an autosomal dominant manner, meaning that a dog with one or two copies of the variant will show clinical signs.

Gene

COL5A1 Exon 34

Inheritance type

dominant

Clinical category

Integument

Citations

1. Bauer et al 2019

• Labrador Retriever
• English Labrador Retriever