5 Facts you should know about

Cat eye syndrome

A chromosome abnormality that affects many different parts of the body

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

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

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

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

See our full disease profile

Rare Ophthalmology News