What’s Cat Eye Syndrome?

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Cat’s eye syndrome is a rare genetic condition caused by extra copies of parts of the 22nd chromosome. Symptoms include coloboma, anal irregularities, widely spaced eyes, and heart defects. The severity of the condition varies, but with effective treatment, people can live normal lives.

Cat’s eye syndrome is a rare genetic condition that can be present when people have extra copies of parts of the 22nd chromosome. There are other names for this group of symptoms such as Schmid-Fraccaro syndrome and partial tetrasomy of chromosome 22. In the latter name, the “partial” means that the extra copy or copies of the chromosomes are incomplete or not normal. However, the name most associated with this disorder is cat eye syndrome, because in some affected individuals, the missing tissue from the eyes called a coloboma can give the pupils a cat-like appearance; this symptom is not present in all people with the condition.

The degree of expression of Cat Eye Syndrome can vary greatly. The two most common defects associated with it are the coloboma and the absence of the canal that forms the anus. Anal irregularities in females often include fissures in the vagina. When one of these defects is present, reconstruction or repair of this area is required.

Other defects associated with this condition include eyelid creases that may droop down, widely spaced eyes, and depressions in the skin in front of the ears, which may also be misshapen. In some cases there are even more serious defects that may require repair. These cover a wide range of congenital heart defects, cleft palate defects, and urinary tract malformations or defects, which can involve the kidneys.

Some children born with cat eye syndrome have mild mental retardation, but this is not always the case. They may be slightly shorter than their peers. On rare occasions, they will also have some skeletal malformations.

It is not always known exactly how Cat Eye Syndrome manifests itself. It can run in families, and people who have the disorder have a one in two chance of passing it on to their offspring. It is thought that some people have the condition in a very mild form, do not know it and can pass it on, but the degree of inheritance from a family member who does not have it is not very clear. Most children born with the condition are the first children in their families to have it.

While the condition incorporates a variety of defects that can be serious, the outlook for people with Cat Eye Syndrome is generally good. It depends on the severity of the related defect and effective treatment of any existing defects, especially in the heart, palate or urinary tract, as well as treatment of any malformations of the anus. When these conditions can be addressed, many people will live full lives, may have children and will most likely have very normal lives, particularly if they do not suffer from retardation.

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