Cat Eye Syndrome

Overview

Type of disease: Rare conditions

Cat Eye Syndrome is a rare chromosomal disorder affecting chromosome number 22. Every person has 23 pairs of chromosomes in each cell (46 in all). This means in every person there are normally two 22 chromosomes. However, having additional or missing chromosomes can affect a person’s health. In Cat Eye syndrome a small piece of chromosome 22 is duplicated, this means there is more of chromosome 22 than there should be.

The main symptom is the shape of the eye is thought to look similar to a cat. There is more distance between the eyes and the outer corners of the eyes point downwards. Some individuals may have other changes that affect the eye itself, such as a coloboma, where tissue is missing from the eye. Other symptoms can include mild fetal growth delays, intellectual disability, changes in the skull, heart, kidneys and anus region. Some individuals may have small growths of extra skin on the ears and the ears may sit lower on the face.

Cat eye syndrome can be inherited in one of two ways. Either the duplication on chromosome 22 is passed down from parent to child in what is called autosomal dominant inheritance or the duplication occurs only in the affected person this is called a de novo mutation, meaning it occurred by random chance. Genetic counseling may be recommended by a health care provider to determine if this can be passed on to children.

This disorder is diagnosed through genetic testing or physical evaluations by a health care professional. Many times it can be diagnosed before birth through prenatal tests like an ultrasound or an amniocentesis. An amniocentesis is when they take a sample of fluid that surrounds the growing fetus and test the fetal chromosomes for changes. If you or a family member has been diagnosed with Cat Eye Syndrome, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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