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5 Facts you should know about

Cat eye syndrome

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1

A chromosome abnormality that affects many different parts of the body

2

Clinical and phenotypic features are variable, and neurologic disturbance with delays of mental, psychologic, and motor development may be present

3

It is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, and frequent occurrence of heart and renal malformations

4

Cat eye syndrome is a rare genetic disease, characterized by modifications of chromosome 22 (partial trisomy or tetrasomy)

5

Life expectancy in cat eye syndrome (also known as Schmid-Fraccaro syndrome) depends on the number and variety of malformations, but in most cases the prognosis is favorable

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