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.

Gene name

ADAMTS2

Inheritance

Autosomal recessive

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 review health history, conduct a thorough exam, and note any clinical signs. A skin biopsy is needed for a definitive diagnosis. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Jaffey JA, Bullock G, Teplin E, Guo J, Villani NA, Mhlanga-Mutangadura T, Schnabel RD, Cohn LA, Johnson GS. A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. Anim Genet. 2019 Oct;50(5):543-545. doi: 10.1111/age.12825. Epub 2019 Jul 11. PMID: 31294848; PMCID: PMC6771693. Uri M, Verin R, Ressel L, Buckley L, McEwan N. Ehlers-Danlos syndrome associated with fatal spontaneous vascular rupture in a dog. J Comp Pathol. 2015 Feb-Apr;152(2-3):211-6. doi: 10.1016/j.jcpa.2014.12.013. Epub 2015 Feb 11. PMID: 25680848.

Disclaimer

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