Cat Eye Syndrome (Schmid–Fraccaro)

By: Elizabeth Newman

What causes it

Cat Eye Syndrome is caused by the short arms of the 22nd chromosome and a small region of the long arms are repeated more times than normal. It can be noticed as early as birth. Because it is an error in the 22nd chromosome there is not way to prevent it.

Who it affects and what it does

Common symptoms of Cat Eye Syndrome is abnormal shaped pupils and ear reduction, as well as having malformations in the heart, kidneys, and other organs in the body. It is a rare genetic disease that can effect anyone. It has been known that some people with the disease have passed it onto their children, but not always. The ones affected may have bad eye sight and will have medical problems for the rest of their lives but if the malformations are not to bad it is common for them to live a full life

Test

The most common types of test used for Cat Eye Syndrome are blood test and the fluorescence in-situ hybridization or the FISH analysis, although there is standard test for diagnosing Cat Eye Syndrome.

Treatment

While it can not fully be healed malformations in the organs can be corrected through surgery, although some patients who have it die from severe malformations. The eye sight of the patient can be helped with prescription glasses.