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]]
[[Image:Coloboma.png|frame|right]]  


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:  
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&nbsp;the vertical, cat-like pupils that people with the syndrome often present. Symptoms associated&nbsp;with this syndrome are very variable and can affect almost every organ. Some of the most common features are:<br>  
 
<br>  


*[[Anal atresia|Anal atresia]]  
*[[Anal atresia|Anal atresia]]  
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*Strabismus (squinting)  
*Strabismus (squinting)  
*[[Heart|Heart]] defects  
*[[Heart|Heart]] defects  
*[[Kidney|Kidney malformations]]
*[[Kidney|Kidney malformations]]<ref>https://rarediseases.org/rare-diseases/cat-eye-syndrome/</ref><ref>https://www.socialstyrelsen.se/rarediseases/cateyesyndrome</ref>
 
<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 13:07, 30 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:

References

  1. ↑ https://rarediseases.org/rare-diseases/cat-eye-syndrome/
  2. ↑ https://www.socialstyrelsen.se/rarediseases/cateyesyndrome
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