Cat eye syndrome: Difference between revisions
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[[Image:Coloboma.png|frame|right|Congenital coloboma in a 67-years-old male patient who suffers CAE]] | |||
Cat eye syndrome (CES) or [[Schmid–Fraccaro syndrome|Schmid–Fraccaro syndrome]] is an uncommon [[Chromosomal disorder|chromosomal disorder]] that involves a [[Trisomy|trisomy]] or [[Tetrasomy|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: | |||
<br> | |||
*[[ | *[[Anal atresia|Anal atresia]] | ||
*Ear tags | *Ear tags | ||
*Widely set eyes | *Widely set eyes | ||
*Strabismus (squinting) | *Strabismus (squinting) | ||
*[[Heart|Heart]] defects | *[[Heart|Heart]] defects | ||
*[[Kidney|Kidney malformations]] | *[[Kidney|Kidney malformations]] | ||
<br> | |||
<ref>https://rarediseases.org/rare-diseases/cat-eye-syndrome/</ref><ref>https://www.socialstyrelsen.se/rarediseases/cateyesyndrome</ref> | |||
=== References === | |||
=== References === | |||
<references /> | <references /> | ||
Revision as of 23:49, 29 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