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Disease Information for Cat Eye Syndrome
- 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
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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.
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- External Links Related to Cat Eye Syndrome
- 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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