Cat Eye Syndrome

Below you will find more information about Cat Eye Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Cat Eye Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Cat Eye Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Cat Eye Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

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.

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.

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.

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.

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