Disease Information for Cat Eye Syndrome

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Clinical Manifestations
Signs & Symptoms
Intelligence normal
Mental Deficiency Child
Growth/development delay
Cat eye-like pupil
Downward sloping eyes/Antimongoloid slant
Preauricular Tags
Associated Diseases & Rule outs
Associated Disease & Complications
Anal Atresia
Cat Eye Syndrome
Cataract
Congenital heart disease
Congenital urinary tract malformations
Imperforate anus
Iris Coloboma Defect
Mental retardation
Preauricula fissure/congenital
Renal anomalies
Renal anomaly/aplasia/hypoplasia
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Gene locus chromosome 22
Pathophysiology/Extra-chromosomal material present
Pathophysiology/Duplication Chomosome mutation
Synonyms
Synonym
Cat eye syndrome, Synonym/Extra chromosome material syndrome
Definition

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.

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External Links Related to Cat Eye Syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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