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What is Cat Eye Syndrome?

Tricia Christensen
Tricia Christensen
Tricia Christensen
Tricia Christensen

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.

Ear deformations may accompany Cat Eye syndrome.
Ear deformations may accompany Cat Eye syndrome.

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.

Defects in the urinary tract may accompany Cat Eye Syndrome.
Defects in the urinary tract may accompany Cat Eye Syndrome.

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.

Anatomy of the a normal eye.
Anatomy of the a normal eye.

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.

Tricia Christensen
Tricia Christensen

Tricia has a Literature degree from Sonoma State University and has been a frequent WiseGEEK contributor for many years. She is especially passionate about reading and writing, although her other interests include medicine, art, film, history, politics, ethics, and religion. Tricia lives in Northern California and is currently working on her first novel.

Learn more...
Tricia Christensen
Tricia Christensen

Tricia has a Literature degree from Sonoma State University and has been a frequent WiseGEEK contributor for many years. She is especially passionate about reading and writing, although her other interests include medicine, art, film, history, politics, ethics, and religion. Tricia lives in Northern California and is currently working on her first novel.

Learn more...

Discussion Comments

anon252207

Is cat-eye syndrome common in a certain ethnicity?

anon96451

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?

anon50507

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.

anon37721

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.

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    • Ear deformations may accompany Cat Eye syndrome.
      By: dimedrol68
      Ear deformations may accompany Cat Eye syndrome.
    • Defects in the urinary tract may accompany Cat Eye Syndrome.
      By: AlienCat
      Defects in the urinary tract may accompany Cat Eye Syndrome.
    • Anatomy of the a normal eye.
      Anatomy of the a normal eye.
    • Cat eye syndrome may occur when people have additional copies of parts of the 22nd chromosome.
      By: Giovanni Cancemi
      Cat eye syndrome may occur when people have additional copies of parts of the 22nd chromosome.
    • Congenital heart defects may accompany Cat Eye syndrome.
      By: Patricia Marks
      Congenital heart defects may accompany Cat Eye syndrome.