Cat Eye Syndrome

By: Katherine Petty

Nick Names for Cat Eye Syndrome

The name Cat Eye Syndrome was picked because of the oval shape present in the individual's eye.

  • CES

  • Schmid-Fraccaro Syndrome

  • Partial Tetrasomy 22

  • Inverted Duplication 22

  • Partial Trisomy 22

What causes Cat Eye Syndrome?

Cat Eye Syndrome is caused when the short arm and a small region of the long arm, of chromosome 22, are present three to four times (rather than twice).

What gene or chromosome is affected by Cat Eye Syndrome?

  • Cat Eye Syndrome is a rare chromosomal disorder.

  • Chromosome 22 is affected.

Are there prenatal tests for this disorder?

There are prenatal tests for Cat Eye Syndrome; however, they are very rare.
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What are the symptoms?

  • Wide Set Eyes

  • Abnormalities to the eyes, ears, heart, and kidney

  • Defects of the iris (coloboma)

  • Skin tags near the ears

What population is affected?

  • Boy and girl babies are the majority of the population.

  • The disease is already diagnosed before they are born because chromosome number 22 didn’t deliver properly.
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Can anyone be a candidate for the disorder?

  • This disorder is very rare and is inherited from the parent

  • It can be inherited if the mother is a carrier

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

Cat Eye Syndrome is autosomal recessive and sex-linked, an inherited gene.

What kind of medical assistance will the affected child need?

  • None, unless symptoms are severe

  • Seeing a doctor or a specialist if necessary

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

Further assistance will not be needed, unless symptoms become severe.

What is the long-term outlook for the child?

The child will live a completely normal life, only the outer appearance, like the ears or eyes, might look a little different.

Are there any treatments or cures?

Treatment may require the efforts of skilled medical professionals, even seeing an eye specialist.

“Treatment is dependent largely on the phenotype of the patient and the severity of the symptoms”

There are more specific forms of treatment for the exact condition. Examples are Pulmonary venous malformations or Preauricular tags/pits.

There are no cures yet, but scientists are working on learning more about Cat Eye Syndrome through examinations and research.
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Could this disorder have been prevented?

No, this is a genetic disorder and there is no known cure yet.

Can this individual have children in the future? Will those children be affected?

  • Yes. Cat Eye Syndrome will not affect the patient from having children.

However, there is a chance that the children will inherit this trait.

What is the current status of research on this disorder?

Scientists are researching on cures, but they are also looking at many other diseases, like cancer, so it may take more time.

Is there a cure/new treatment coming soon?

  • Scientists are working on developing a cure.

  • There are already a handful of treatments, however there is a possibility for new treatment in the future.

Any other information you believe is relevant/included?

  • If you have Cat Eye Syndrome, both eyes could be differently colored.

  • “Statistics from the National Center for Biotechnology Information estimate that cat eye syndrome affects one in every 50,000 to 150,000 live births.”

Works Cited

Behrman, RE. "Cat Eye Syndrome - NORD (National Organization for Rare Disorders)." NORD National Organization for Rare Disorders Cat Eye Syndrome Comments. N.p., n.d. Web. 05 May 2016.

Chen, H. "Diagnosis and Treatment." Cat Eye Syndrome Blog Posts RSS. N.p., 2006. Web. 05 May 2016.

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

Morrison, Patrick J. "The Iris – a Window into the Genetics of Common and Rare Eye Diseases." The Ulster Medical Journal. The Ulster Medical Society, Jan. 2010. Web. 05 May 2016.

Lipson, Stacy. "'Cat Eye Syndrome' Makes Eyes Look Feline." NBC News. N.p., 19 Jan. 2011. Web. 05 May 2016.