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Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
General information
Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility. The variant analysed in this test, Ehlers-Danlos Syndrome type VII (Type 7, also known as Dermatosparaxis) is found in the Doberman Pinscher, and is caused by a recessive mutation to the gene ADAMTS2. Similar variants of Dermatosparaxis also affect the Alapaha Blue Blood Bulldog, Pit Bull Terrier and the Catahoula Leopard Dog.
Clinical features
Affected puppies may die at birth. Survivors present within the first few weeks of age with loose, elastic and fragile skin; painful and hypermobile joints; and ocular chemosis (swollen eyes). The skin is easily injured or torn, and wounds are persistent. Euthanasia on humane grounds may be necessary.
Additional information
References
Pubmed ID: 31294848
Omia ID: 328