Cat Eye Syndrome

Cat eye syndrome is a genetic disorder in which there is a malformation of chromosome 22. Our body is composed of billions of tiny cells, and each cell has an organized structure of DNA and proteins. These cells are found in structures called chromosomes. Chromosome 22 is the second smallest chromosome found in humans. Generally, people have two copies of chromosome 22. However, in the cat eye syndrome, there are 3 to 4 copies of chromosome 22. Cat eye syndrome is caused due to the presence of these extra chromosomes.

Cat eye syndrome is a chromosomal abnormality which results in the disorder being present at birth. In most cases, it can be easily detected even before birth. Baby born with common abnormalities that include intelligence mildly impaired and other diseases of the heart and kidneys. Malformation can be clearly noticed in the iris retina or other tissues of the eye. This syndrome also changes the appearance of the eye. The name "cat's eye" is given as the malformation of the iris makes students like a cat. In this condition, a tissue associated with the eye may be partially missing. In some cases, the abnormality can be present in both eyes, and is known as syndrome of bilateral cat eye.

Diagnosis

As the cat eye syndrome is an inherited genetic disorder, occurs by birth. The defect may arise from either parent, as can be transmitted through both sexes. A person is diagnosed considering the symptoms present in the body. Genetic testing is used to check for genetic defects in chromosomes.

Treatment

The treatment is given according to the symptoms of the subject is diagnosed. Doctors recommend surgery to repair congenital defects in the heart or anus. Patients with short stature are given growth hormone therapy.

A recent study suggests that the cat eye syndrome affects about 1 in 74,000 people, making this a very rare disease. This chromosomal disorder can occur in both males and females. In many cases, individuals born with this syndrome is prevalent because their families.