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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cat Eye syndrome


Other Names for this Disease
  • CES
  • Chromosome 22 partial tetrasomy
  • INV DUP(22)(Q11)
  • Schmid-Fraccaro syndrome
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What causes cat eye syndrome?

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What causes cat eye syndrome?

Cat eye syndrome is most often caused by a chromosomal change called an inverted duplicated 22. In people with this condition, each cell has at least one small extra chromosome made up of genetic material from chromosome 22 that has been abnormally copied (duplicated). The extra genetic material causes the characteristic signs and symptoms of cat eye syndrome, including an eye abnormality called an iris coloboma (a gap or split in the colored part of the eye), small skin tags or pits in front of the ear, unusually formed ears, heart defects, kidney problems, malformations of the anus, and, in some cases, delayed development.[1]
Last updated: 12/5/2013

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