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What is Cat Eye Syndrome?

Tricia Christensen
Updated May 17, 2024
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Cat eye syndrome is a scarcely occurring genetic condition that may be present when people have additional copies of parts of the 22nd chromosome. Other names for this group of symptoms exist like Schmid-Fraccaro syndrome and Chromosome 22 Partial Tetrasomy. In the latter name, the “partial” means that additional copy or copies of chromosomes are incomplete or not normal. However, the name most associated with this disorder is Cat Eye syndrome, because in some individuals who have it, missing tissue from the eyes called coloboma, can give the pupils a catlike appearance; this symptom is not present in all people with the condition.

The degree to which Cat Eye syndrome is expressed can vary greatly. The two most common defects associated with it are coloboma and absence of the canal that forms the anus. Anal irregularities in females frequently include fissures into the vagina. When any of these defects are present, reconstruction or repair of this area is required.

Other defects associated with this condition include eyelid folds that may slant downward, eyes that are widely spaced apart, and depressions in the skin in front of the ears, which may also be misshapen. More severe defects that might necessitate repair present too, in some cases. These are a wide range of congenital heart defects, cleft palate defects, and malformations or defects in the urinary tract, which may involve the kidneys.

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

It isn’t always known exactly how Cat Eye syndrome manifests. It can occur in families and people who have the disorder have a one in two chance of passing it onto offspring. It’s thought that some people have the condition in very mild form, don’t know it, and may pass it on, but degree of inheritance from a family member who doesn’t have it, isn’t very clearly understood. The majority of kids born with this condition are the first kids in their family to have it.

Though the condition does incorporate a variety of defects that can be severe, outlook for people with Cat Eye syndrome is usually good. It does depend on related defect severity and successful treatment of whatever defects exists, particularly in heart, palate or urinary tract, in addition to treatment of any malformations of the anus. When these conditions can be addressed, many people will live a full life, may have children, and quite possibly will have very normal existences, particularly if they do not suffer from retardation.

WiseGeek is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.
Tricia Christensen
By Tricia Christensen
With a Literature degree from Sonoma State University and years of experience as a WiseGeek contributor, Tricia Christensen is based in Northern California and brings a wealth of knowledge and passion to her writing. Her wide-ranging interests include reading, writing, medicine, art, film, history, politics, ethics, and religion, all of which she incorporates into her informative articles. Tricia is currently working on her first novel.
Discussion Comments
By anon252207 — On Mar 04, 2012

Is cat-eye syndrome common in a certain ethnicity?

By anon96451 — On Jul 15, 2010

I went to school with a beautiful girl who had two up and down slits for her pupils - like a cat. She was totally normal otherwise. I've never met another. Is that cat eye syndrome?

By anon50507 — On Oct 29, 2009

i have one cat eye in my left eye. i cannot see good out of it. i am 30 years old now but i have never been able to see well out of it. everything is blurry.

By anon37721 — On Jul 21, 2009

Well I have cat eyes, they are very beautiful and my father has one (along with a blue and green eye) and I passed one to my daughter. My aunt also had them. I did have scoliosis and did have the surgery whether that was realted or not, not sure. I get compliments all the time but the down side is i am extremely prone to avoid the sunlight, it bothers my eyes and my eyesight is not that great. I do wear clear contacts.

Tricia Christensen
Tricia Christensen
With a Literature degree from Sonoma State University and years of experience as a WiseGeek contributor, Tricia...
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