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Cat Eye Syndrome

Cat Eye Syndrome Causes

The syndrome is said to be caused by the extra chromosome 22 that typically arises spontaneously; however, reports also show that it is hereditary in families.

Cat Eye Syndrome Definition

Cat Eye syndrome is a very uncommon chromosomal disorder relating to chromosome 22 genetic abnormalities. The syndrome affects the eyes' appearance, and can be apparent at birth. Its name is derived from the distinctive eye abnormality present in affected individuals. This characteristic consists of the partial lack of coloboma or ocular tissue, which often affects both eyes.

Cat Eye Syndrome Diagnosis

Cat eye syndrome is hereditary, so it comes with birth. Diagnosis is generally based on apparent symptoms. Genetic testing aids in confirming the existence of particular genetic defect of chromosome 22 that's connected to the syndrome.

Cat Eye Syndrome Symptoms and Signs

The symptoms associated with the syndrome can vary significantly in severity and range. Although some individuals can have mild or few manifestations that can stay unrecognized, others can have full range of malformations. More specific symptoms include coloboma, ocular hypertelorism, palpebral fissures, and/or some other ocular abnormalities. Other symptoms include anal atresia, small skin tags in outer ears, short stature, congenital heart defect, and cleft palate.

Cat Eye Syndrome Treatment

The focus of treatments is on the symptoms the patient has. A number of children may require surgery in repairing birth defects in the heart or anus. Life expectancy isn't drastically reduced for individuals that don't have critical physical problems.

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