Cat eye syndrome: Difference between revisions
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Created page with "Cat eye syndrome (CES) or Schmid–Fraccaro syndrome is an uncommon chromosomal disorder that involves a [[Trisomy|trisomy..." |
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Revision as of 18:44, 28 November 2015
Cat eye syndrome (CES) or Schmid–Fraccaro syndrome is an uncommon chromosomal disorder that involves a trisomy or tetrasomy of part of chromosome 22. The term of 'cat eye' is derived from the vertical, cat-like pupils that people with the syndrome often present. Symptoms associated with this syndrome are very variable and can affect almost every organ. Some of the most common features are:
- Anal atresia
- Ear tags
- Widely set eyes
- Strabismus (squinting)
- Heart defects
- Kidney malformations