Cat Eye Syndrome

Learn more about this disease here!!!

Name of genetic disorder. What other names are there for this disorder? (Any common names?)

Cat Eye Syndrome.

Other names: None

What causes the disorder? (mutation, nondisjunction)

A distinctive eye abnormality that is present in some affected individuals. This feature consists of partial absence of ocular tissue , often affecting both eyes.

What gene or chromosome is affected by this disorder? (X, Y, 21)

Chromosome 22 is affeced by this disorder. It appears 3 or 4 times instead of 2 times.

Are there prenatal tests for this disorder?

There are no parental tests for the Cat Eye Syndrome disease.

What are the symptoms?

Symptoms of the Cat Eye Syndrome may include oddness of the eyes, ears, anal region, heart and/or kidney in people affected by cat eye syndrome.

What population is affected?

Scientists have not gotten to the point of knowing the specific population that Cat Eye Syndrome affects.

Can anyone be a candidate for the disorder?

Yes, anyone can be a candidate for the disorder. Although it is more likely to be developed during birth.

How is it inherited? (Is it sex-linked, recessive, and/or dominant?)

The Cat Eye Syndrome is inherited with the presence of an extra chromosome fragment. It is also a recessive sex linked gene.

What kind of medical assistance will the affected child need?

No there will be no medical assistance needed besides extra parental guidance for the disease.

Will further assistance be needed, as the child grows older?

Further assistance as the child grows older will not be necessary, but keep an eye on the child for symptoms or any signs of the Cat Eye Syndrome disease.

What is the long-term outlook for the child?

The outlook varies from person to person and also depends on the symptoms and signs that the child may be experiencing.

Are there any treatments or cures?

There are treatments for the Cat Eye Sndrome disease, but unfortunatly no cure. These treatments vary from the symptoms that the child or adult may be facing.

Could this disorder have been prevented?

No, the Cat Eye Syndrome could not have prevented. It is one of those things where it just comes naturally into the child or adult.

Can this individual have children in the future?

Yes, this individual can have children in the near future. The Cat Eye Syndrome does not affect the egg or sperm of the male and female. If a male or female has Cat Eye Syndrome, then they should have no problem with having a child.

Will those children be affected?

Those children will be affected by this disease, but they will not die from it or get severally injured, apart from the symptoms.

What is the current status of research on this disorder?

The current status of the research for this disorder, is going well but not as well as it could be going. The purpose of research is to create human induced pluripotent (capable to give rise to several different cells). All this is for the better understanding for the disorder, Cat Eye Syndrome.

Is there a cure/new treatment coming soon?

As of right now, there are no cures or treatments coming soon until scientists figure out more about this disorder. Surgery is an option for a treatment, but other than that there is no further treatment or cures yet.

Works CIted Page:

Cat Eye Syndrome Disease." Cat Eye Syndrome. N.p., 27 Feb. 2012. Web. 05 May 2016.


"Cat Eye Syndrome - NORD (National Organization for Rare Disorders)."NORD National Organization for Rare Disorders Cat Eye Syndrome Comments. Many Sponsors, 2016. Web. 05 May 2016


"Diseases." Cat Eye Syndrome. N.p., 13 Apr. 2015. Web. 05 May 2016


Kugler, Mary. "What Is the Cat Eye Syndrome Genetic Birth Defect?" Verywell. N.p., 1 Apr. 2016. Web. 05 May 2016.