CKCSID - Congenital Keratoconjunctivitis Sicca and Ichtyosiform Dermatosis/Cavalier King Charles Spaniel

Dry eye curly coat syndrome

Description: 
Conjunctivitis sicca associated with a frizzy characteristic coat present from birth
Symptomes: 
Ocular discharge due to reduced production of aqueous tears, persistent scale along the dorsal spine, frizzy and alopecic coat, gingivitis, hyperkeratinised abdominal skin and footpads with nail growth abnormalities
Age d'aparition: 
From birth
Fréquence: 
French population : 7,3% carriers ; English population : 8% carriers
Gène impliqué: 
FAM83H
Mutation testée: 
c.1016delC (Exon 5)
Transmission: 
Autosomal Recessive
Brevet: 
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Remarques: 
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