Problem

Cat eye syndrome

Nature:

Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22. In consequence, individuals with the cat-eye syndrome have three (trisomic) or four (tetrasomic) copies of the genetic material contained in the abnormal chromosome instead of the normal two copies. The prognosis for patients with CES varies depending on the severity of the condition and their associated signs and symptoms, especially when heart or kidney abnormalities are seen.

Broader Problems:
Chromosome 22 disorders
Subject(s):
Birds, Mammals Carnivores
Medicine Eyesight
Medicine Pathology
Related UN Sustainable Development Goals:
GOAL 3: Good Health and Well-being
Problem Type:
G: Very specific problems
Date of last update
07.01.2020 – 18:19 CET