Cat eye is a syndrome related to abirth defect some people might experience due to chromosomalabnormalities. Namely, cat eye syndrome takes place due toabnormalities in the chromosome 22, which is the second smallestchromosome in our whole body. In ideal conditions, we are supposed tohave 2 copies of these chromosomes in our body. Having 3 or 4 of theseresults in the development of the cat eye syndrome. This syndromeusually goes hand-in-hand with a slight mental retardation and organproblems, along with specific physical deformations, mainly regardingthe eyes of individuals. The eyes of the people with the cat eyesyndrome resemble those of a cat, due to a specific look of thepupils and some other deformations and abnormalities regarding theiris. Finally some other eye deformations may take place, and thesyndrome may affect both eyes at once.
Manifestations of Cat Eye Syndrome
Apart from the above mentioned eyeiris, retina and pupil deformations, along with the mentalretardation, there are often quite noticeable anomalies regarding theeye opening between the eyelids. Namely, it too can be cat-like.Moreover, eyes can be widely positioned one from another and one'sface and skull can be affected too. Additionally, a missing kidney,or kidney problems in general, along with the missing or malformedanus can all be clear signs of the cat eye syndrome. Heart problemsadd on to the list, as well as hernia, ear deformations andshortness in growth.
Diagnosis and Treatment
Even though this syndrome is quiteobvious due to its many distinctive features, still, once a child issuspected to have inherited this chromosomal anomaly from one or bothof its parents, genetic tests are performed for confirmation. Then,after noticing any genetic deformities, the cat eye syndrome isconfirmed and, thus, diagnosed.
Treatment may involve taking care ofany physical problems. Mainly, this involves surgeries to solve theheart, anus or other problems related to this syndrome. Additionally,some correctional surgeries can be made for modifying any otherdefects which can cause health problems in the future. If shortnesstakes place, people with cat eye syndrome are given growth hormonesthrough a special therapy. However, not much can be done, taking intoconsideration that this is an inborn state of affairs, caused bygenetic factors. Even though extremely rare, once noticed in certainfamilies, this syndrome is known to appear in future generations,being transferred genetically.