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Cat-eye syndrome

Disease definition

Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.

ORPHA:195

  • Synonym(s):
    • CES
  • Prevalence: 1-9 / 100 000
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q92.8
  • OMIM: 115470
  • UMLS: C0265493
  • MeSH: C535918
  • GARD: 26
  • MedDRA: -

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