Disease overview

Ehlers-Danlos syndrome is a disease that causes abnormal collagen production, resulting in hyper extensive and fragile skin as well as joint hypermobility.

Gene name

TNXB

Inheritance

Autosomal recessive

Signs and symptoms

Signs typically present prior to 2 years of age. These include 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

, , , , Springer Spaniel, , ,

Citations

Bauer A, de Lucia M, Leuthard F, Jagannathan V, Leeb T. Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. Anim Genet. 2019 Oct;50(5):546-549. doi: 10.1111/age.12830. Epub 2019 Jul 31. PMID: 31365140.

Rasch SN. Surgical and medical treatment of ocular disease in a dog with Ehlers-Danlos syndrome. Clin Case Rep. 2017 Apr 24;5(6):880-886. doi: 10.1002/ccr3.953. PMID: 28588831; PMCID: PMC5458014.

Disclaimer

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