Cat Eye Syndrome

By: Maria Naumovich

Cat Eye Syndrome Names

Cat Eye Syndrome is also known as:

  • Feline Eye
  • CES
  • Chromosome 22, Inverted Duplication
  • Chromosome 22, Partial Tetrasomy
  • Chromosome 22, Partial Trisomy
  • Schmid-Fraccaro Disease

Cause of Cat Eye Syndrome

This disorder is caused by a mutation and the chromosome that is being affected is chromosome 22, which is why three of Cat Eye Syndrome's nicknames involve the words "chromosome twenty two" in the name.

Prenatal Tests

In certain cases, it is possible to diagnose if a baby still inside of the womb will have cat eye syndrome. Ultrasounds, Amniocentesis, and Chorionic Villus Sampling (CVS), can all be used to possibly determine if a child has cat eye syndrome before they are born.

Symptoms of Cat Eye Syndrome

  • Iris Coloboma
  • Anal Atresia
  • Skin tags on pits or front of the ears
  • Unusually shaped ears
  • Conductive hearing loss
  • Hypertelorism, which is when eyes are widely spaced from each other
  • Cleft lip
  • Congenital heart defects
  • Urinary tract problems
  • Developmental delay
  • Skeletal abnormalities
  • Learning disabilities

What is Affected?

The population that is being affected was originally thought to be the coloboma iris, since the syndrome got its name from the very noticeable symptom, but because this disorder can't be recognized from a few associated symptoms, it is difficult to know what exactly is being affected and how to diagnose it. It is known that it is possible for anyone to have this syndrome and be affected by it because this syndrome does not apply to a certain gender or a specific race, although it is rare overall.
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The inheritance for cat eye syndrome is dominant, so it is not sex linked and it is not recessive. This disorder is also not something that can be prevented. If you know your child will have it before they are born, there is no medicine or surgery that will change that, however surgery and/or medicine could be used in the future of this child's life to help the symptoms, since the symptoms are the only things that can be treated.
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Affects on children

Children that have cat eye syndrome typically have a normal life expectancy, but it all depends on the symptoms that are affecting the children. Once again, the assistance that the need all depends on the symptoms that the child experiences and goes through. The child could possibly need to see a physical therapist, have a special education teacher, have to use hearing aids, and have to use a wheelchair. Surgery and different types of methods are also used to help with the affects that Cat Eye Syndrome has on children, as well as adults.

Affects on children

A child with Cat Eye Syndrome can still have kids of their own, and in some cases the Cat Eye Syndrome mutation can be passed down onto their kids, but this mutation typically surfaces spontaneously. If the child with Cat Eye Syndrome has a child with Cat Eye Syndrome, this does also not necessarily mean that their child will have the symptoms that their parent has. Their child could have very minor symptoms opposed to their parents serious symptoms and vice versa.

Cure/New Treatment

The treatment for Cat Eye Syndrome is treating the symptoms. Cat Eye Syndrome is currently not curable, but a lot o f the symptoms are, which is why people with Cat Eye Syndrome can commonly live a normal and healthy life with little to no assistance. The Treatment can focus on a numerous amounts of symptoms, such as the repairing of birth defects in the heart, having surgery to fix a cleft lip, having a hearing aid to help with the conductive hearing loss, etc. However, coloboma iris, the symptom that gives the person the cat eye-look, can't be treated, which means that the cat-eye look will remain the same if the person has the symptom. Although, some people with cat eye syndrome don't have this symptom as often as you think they would based off of the name.


The region on a chromosome whose deletion/duplication will show or not show the defining characteristics of a syndrome for Cat Eye Syndrome is located on chromosome 22. The discovery of this critical region has let researchers begin to identify Cat Eye Syndrome candidate genes.
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Works Cited

"Cat Eye Syndrome | Disease | Treatment | Office of Rare Diseases Research

(ORDR-NCATS)." Cat Eye Syndrome | Disease | Treatment | Office of Rare Diseases

Research (ORDR-NCATS).

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Kugler, R.N. Mary. "Cat Eye Syndrome Genetic Birth Defect." Rare Diseases-Chromosome

Disorders. N.p., n.d. Web. 29 Apr. 2015.

Nord. "Cat Eye Syndrome." Rare-diseases — National Organization for Rare Disorders.

N.p., n.d. Web. 29 Apr. 2015.

Nord. "Cat Eye Syndrome." Rare Diseases-Rare Disease Information.

N.p., n.d. Web. 29 Apr. 2015.

PFond. "Research." Cat Eye Syndrome Blog Posts RSS.
N.p., 02 Oct. 2012. Web. 29 Apr. 2015.

"Support for Disorders of Chromosome 22 We Are Here for You."CHROMOSOME 22


N.p., n.d. Web. 29 Apr. 2015.

Turleau, Katherine. "The Portal for Rare Diseases and Orphan Drugs."Orphanet: Search a


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