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Cat Eye Syndrome: A Genetic Condition

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Cat eye syndrome is a genetic condition , a way to describe it is to say that it is an abnormality in chromosome 22. It can lead to a coloboma of the iris witch is how it got its name . The eyes look cat-like but work the same as a normal human .

Cat eye syndrome or “Schmid Fraccaro syndrome” is a rare condition caused by the short arm and a small section of the long arm of human chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times. The name “cat eye syndrome” is derived from a distinctive eye (ocular) abnormality that is present in a little over half affected individuals.

Most cases of eye cat syndrome are not hereditary , the condition generally occurs even during the formation of …show more content…
If suspicious features are observed on prenatal ultrasound follow up testing such as an amniocentesis or chorionic villus sampling may be ordered to further investigate a diagnosis. It is also important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider. Because cat eye syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person …show more content…
In addition, the outer portions of the ears (auricles) may be low set and/or malformed sometimes with blind-ending or absent external ear canals . In most cases, absence of the external ear canal tends to affect one ear and may cause mild hearing impairment due to inadequate transmission of sound from the external to the inner ear (conductive hearing loss).
But also the good thing about this is that many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics.
Unfortunately, as cool as this might look, there is a number of issues associated with this condition. Although there is no significant reduction in life expectancy in patients who are not afflicted with one of CES’ life-threatening abnormalities, many people with CES suffer from several ocular defects, including downslanting eyelid folds (palpebral fissures), widely spaced eyes ,small depressions or growths on the ears, kidney problems, short stature, hernia ,intellectual disability only a fraction of CES sufferers have normal intelligence, skeletal defects,

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