Cat eye syndrome: Difference between revisions
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[[Image:Coloboma.png|frame|right|350x300px | [[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 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 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:<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]] | ||
| Line 8: | Line 8: | ||
*Strabismus (squinting) | *Strabismus (squinting) | ||
*[[Heart|Heart]] defects | *[[Heart|Heart]] defects | ||
*[[Kidney|Kidney malformations]]<ref> | *[[Kidney|Kidney malformations]] | ||
Patients suffering CES can present normal intelligence. Nevertheless, some individuals can present mental retardation, rarely cases of several retardion are reported. <ref>http://www.c22c.org/ces.htm</ref> | |||
Approximately 1-9 out of 100 000 persons have this rare disorder. <ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&amp;amp;Expert=195</ref><br> | |||
=== 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]
- Anal atresia
- Ear tags
- Widely set eyes
- Strabismus (squinting)
- Heart defects
- Kidney malformations
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]