Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia. More detailed information about the symptoms, causes, and treatments of Cat Eye Syndrome is available below.
See full list of 72 symptoms of Cat Eye Syndrome
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See full list of 11 occasional symptoms of Cat Eye Syndrome
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Coloboma of the iris (giving the appearance of a vertical pupil, hence the name "cat eye"), atresia of the anus, preauricular tags or fistulae, congenital cardiovascular abnormalities, urinary tract anomalies, and reduced growth rate. Mental retardation is not a consistent feature and, when present, it is usually mild. - (Source - Diseases Database)
Cat Eye Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Cat Eye Syndrome, or a subtype of Cat Eye Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Cat Eye Syndrome as a "rare disease".
Source - Orphanet
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