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cat-eye syndrome

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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.

Synonyms

  • CAT eye syndrome
  • CES
  • Cat Eye Syndrome
  • Inv dup(22)(q11)
  • Schmid-Fraccaro syndrome
  • cat-eye syndrome (Type I)
  • chromosome 22 partial tetrasomyCAT eye syndrome
  • CES
  • Cat Eye Syndrome
  • Inv dup(22)(q11)
  • Schmid-Fraccaro syndrome
  • cat-eye syndrome (Type I)
  • chromosome 22 partial tetrasomy
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