Cat eye syndrome

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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&Expert=195
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