Dry Eye Curly Coat Syndrome (CCS, DE-CC)
Kodas: H913
Short description
Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID), colloquially known as 'Dry Eye Curly Coat Syndrome', is a disorder found in the Cavalier King Charles Spaniel.
General information
Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID), colloquially known as ‘Dry Eye Curly Coat Syndrome’, is a disorder found in the Cavalier King Charles Spaniel. There are two elements to CKCSID: a severe form of dry eye (Keratoconjunctivitis Sicca, KCS), and a skin disorder. The disease is caused by a recessive mutation to the gene FAM83H.
Specifications
| Breeds | |
|---|---|
| Gene | FAM83H |
| Chromosome | 13 |
| Mutation | c.977del |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | CKCSID |
Clinical features
Affected puppies are born with an abnormal rough or curly coat and an inability to properly produce tears, which leads to a severe form of dry eyes. Symptoms include red eyes, itchy and/or scaly skin, cracked and sore paw pads, deformed nails and poor dental health.
References
Pubmed ID: 22253609
Year published: 2012
Omia ID: 1683
Omia variant ID:
Turnaround information
- 10 working days