Cat eye syndrome: Difference between revisions

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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:
[[Image:Coloboma.png|frame|right|350x300px]]  


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:<ref>https://rarediseases.org/rare-diseases/cat-eye-syndrome/</ref><ref>https://www.socialstyrelsen.se/rarediseases/cateyesyndrome</ref>


 
*[[Anal atresia|Anal atresia]]  
*[[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]]


Patients suffering CES can present normal intelligence. Nevertheless, some individuals can present mental retardation, rarely cases of several retardion are reported.&nbsp;<ref>http://www.c22c.org/ces.htm</ref>


Approximately 1-9 out of 100 000 persons have this rare disorder.&nbsp;<ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&amp;amp;amp;Expert=195</ref><br>


<ref>https://rarediseases.org/rare-diseases/cat-eye-syndrome/</ref><ref>https://www.socialstyrelsen.se/rarediseases/cateyesyndrome</ref>
=== References ===
 
=== References ===


<references />
<references />

Latest revision as of 11:37, 4 December 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:[1][2]

Patients suffering CES can present normal intelligence. Nevertheless, some individuals can present mental retardation, rarely cases of several retardion are reported. [3]

Approximately 1-9 out of 100 000 persons have this rare disorder. [4]

References

  1. ↑ https://rarediseases.org/rare-diseases/cat-eye-syndrome/
  2. ↑ https://www.socialstyrelsen.se/rarediseases/cateyesyndrome
  3. ↑ http://www.c22c.org/ces.htm
  4. ↑ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&amp;amp;Expert=195
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