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What is Cat Eye Syndrome?
Cat Eye Syndrome also bonk as Schmid - Fraccaro Syndrome is a very rarified disease . It is a very serious chromosomal disease get when chromosome 22 is present 3 or 4 time where originally it should be 2 . It may affect many component part of the body like eyes , ears , mettle , and kidneys . Cat Eye Syndrome affects the mentioned body parts even before they are formed . The disease is congenital , and hence , people are born with it . Individual ’s bear upon with Cat eye syndrome has a true cat - shaped eye , hence the name . Only 1 in 50,000 masses have this disease . Some citizenry might not even notice that they have Cat Eye Syndrome because of mild symptoms[1 ] . Majority of people with the Cat Eye Syndrome live a normal life . Due to severe malformations , some patient might die during their early childhood .
Symptoms of Cat Eye Syndrome
The symptom of Cat Eye Syndrome change from person to person . The most common body contribution which get sham during the Cat Eye Syndrome are oculus , kidney , auricle , inwardness , intestines , and generative organs .
Some common symptom of cat eye syndrome are :
Causes of Cat Eye Syndrome
There are 23 chromosome present in the human body . Cat Eye syndrome come about when there is an abnormalcy in the child ’s chromosome 22 . Each chromosome has a short limb , a foresightful arm and the part where both the arm connect . ordinarily , 2 copies of chromosome 22 are present in the human body . In Cat Eye Syndrome , there are two extra written matter face each of the light limb and a small part of the long arm of chromosome 22[1 ] . This leads to the abnormal growth of body component of the small fry in the embryonic stage . The accurate effort is not yet infer .
The front of the extra copy of the chromosome is not inherited but they are formed randomly while cadre division . There is a high risk that Cat Eye Syndrome will be inherited from the parent to the baby and a chance of it being transmitted to several generations exists .
Diagnosis of Cat Eye Syndrome
Even before the baby is give birth , the doctor can notice the presence of Cat Eye Syndrome usingUltrasoundtechnology . In ultrasonography , an image of the fetus is bring forth using high - frequency sound waves . The defective body share which are symptoms of the Cat Eye Syndrome are captured in this image . After this , the doc might recommend you tests like an amnio , in which the fluid from the uterus is pull away and analyzed , or chorionic villus sample distribution , in which a small sample of the placenta is assume through abdomen or vagina and essay . During this psychometric test , the extra chromosomes , if present , are found .
Further , a specializer will perform two genetic tests on these samples-
Thus , the Dr. can discover the Cat Eye Syndrome even before the child ’s birth . A bone biopsy can also unveil whether or not the child has the Cat Eye Syndrome . Once it is confirmed that the child has Cat Eye Syndrome , multiple tests will be performed to hold back for other dead body part abnormalities , like heart mar , abnormal kidneys , and so on , which are :
Complications of Cat Eye Disease
complication of Cat Eye Syndrome depend on the symptoms a patient is showing . However , the most common complications of Cat Eye Syndrome are :
Treatment for Cat Eye Syndrome
symptom of Cat Eye Syndrome vary from somebody to someone . Thus , the treatment varies from mortal to person , depend on their condition and symptoms . Cat Eye Syndrome has no cure as an overall disease as it is a permanent genetic modification , but each individual job can be look upon . These individual treatments might prolong for life . The discussion will involve the coordination and support of various specialists . The individual treatments include various medicine , operating room , therapies , and so on . Coloboma can never be wholly treat , but the eye - vision can be slightly improved using glasses . eye defects can be treated in most of the cases with the help of surgical process . The extra skin collect near ears or eyes can also be removed using some minor surgeries . The surgery for anal atresia is perform soon after the birth of the child . Hyperactivity can be get by with therapies and counseling . pocket-size surgery can be performed to treat Preauricular tags / pits . Pulmonary venous malformations are treated by cover the touch site by medical glue . Hormonal therapy is suggested for short stature . Speech therapy is suggested for problems with talking .
Conclusion
Cat Eye Syndrome is a rarefied chromosomal disease . It is detected even before the birth of the child . There are various soundbox parts which get touch on due to this disease . The life expectancy vary depending on the extent to which the syndrome has affect the affected role . Depending on the severity of the malformations , the patient may live a normal life or may croak at a very former age . Cat Eye Syndrome can never be cure completely . Hence , people must be made known to this disease and its treatment .
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