Curly coat/dry eye syndrome (CKCS) (CKCSID)
Summary
Curly coat/dry eye is the name given to an inherited syndrome in some Cavalier King Charles Spaniels pups. It's also called congenital keratoconjunctivitis sicca and ichthyosiform dermatosis. It causes serious health problems that affect the eyes, skin, coat and paws from birth, getting worse as the puppy grows. Eye and skin problems may cause vision issues and itchy skin, respectively. Paw issues can be painful for the puppy and make it hard to walk.
Unfortunately, there's no cure for this syndrome. Managing it is difficult, and some owners choose to have their puppies put down due to poor quality of life. Testing for the mutant form of the FAM83H gene, which causes this syndrome, can help breeders avoid producing affected pups.
This syndrome requires two copies of the mutant FAM83H gene, one from each parent, to develop in dogs. It affects both males and females equally. Carriers (one copy) won't have this syndrome, but can pass the gene on to offspring.
Gene or region and technical reference
Gene: FAM83H (causative). Reference: Forman et al. (2012)
Reported alleles
n. Test developed using artificial DNA, animal controls.
CKCSID. Test developed using artificial DNA, animal carriers.
Panels: groups of tests that are often ordered together
This test is in the CKCS health mini-panel.
