Ectodermal Dysplasia - Skin Fragility Syndrome (ED/SFS) is a painful, inherited disease in Chesapeake Bay Retriever. Affected dogs are born with a dysfunctional form of a protein important in linking adjacent skin cells together. Affected dogs have unusually fragile skin that is easily damaged during normal activity. Disease is recognized shortly after birth with pale, translucent skin on dog’s ears, feet, nose and mouth. ED/SFS is very painful disease and most affected dogs die in the neonatal period or are euthanized shortly after birth.

Inheritance: autosomal recessive - read more

Mutation: PKP1 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.