Disease overview

Ehlers-Danlos syndrome is a disease that causes abnormal collagen production, resulting in hyperextensive and fragile skin as well as joint hypermobility. Currently, there is no treatment for this disease. Affected dogs tend to be more prone to injury.

Gene name

COL5A1

Inheritance

Autosomal dominant

Signs and symptoms

Hyperelastic skin that is easily torn and prone to atrophic scarring (indentations/depressions in the skin). Affected dogs are typically injury prone and skin can bruise or bleed following even minor trauma, which can lead to secondary skin infections.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. A skin biopsy is needed for a definitive diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Bauer A, Bateman JF, Lamandé SR, Hanssen E, Kirejczyk SGM, Yee M, Ramiche A, Jagannathan V, Welle M, Leeb T, Bateman FL. Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome. Genes (Basel). 2019 Sep 21;10(10):731. doi: 10.3390/genes10100731. PMID: 31546637; PMCID: PMC6826881.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.