Cat eye syndrome: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
[[Image:Coloboma.png|frame|right]] | [[Image:Coloboma.png|frame|right|350x300px|Coloboma.png]] | ||
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> | 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> | ||
Revision as of 10:20, 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:
- Anal atresia
- Ear tags
- Widely set eyes
- Strabismus (squinting)
- Heart defects
- Kidney malformations[1][2]