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The nucleus of every cell in our bodies contains chromosomes,  which carry our genetic characteristics. Humans have 22 pairs of chromosomes, with a third pair of XX for females or XY for males. Each chromosome has a short arm and a long arm.

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In patients with Cat eye syndrome, the 22nd chromosome is affected. The short arm of the chromosome and a portion of the long arm are present four times in the body instead of two. In some diagnosed patients, a region of the long arm is present in three copies.

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Symptoms are shown from birth, and are sometimes detectable during the pregnancy. Symptoms are a result of abnormal development during the embryo and fetal stages of the pregnancy. Some people with Cat eye syndrome barely show any symptoms, while others show a wide range with varies extremities. Because of this, scientists say it is best to view Cat eye syndrome as a spectrum of symptoms.

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Most people with CES have some sort of eye abnormality, the most common of which is an iris that appears like a cat's. This happens because there is a gap in the pupil, resulting in an elongated pupil spectrum.

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Anal abnormalities are almost a given for individuals with CES.

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Ear abnormalities are also very common. They are present in 80% or people with CES. This usually refers to preauricular skin tags and/or pits, which can sometimes cause mild to moderate hearing impairment.

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50% of people with CES have heart defects. Structural abnormalities of the heart at birth results in congenital heart defects.

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A study of people with CES indicates that 47% have normal IQ levels, 22% have borderline normal, 18% have mild intellectual disability, and 14% have moderate intellectual disability.

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CES can be diagnosed before birth with the use of ultrasound, amniocentesis, and chronic villus sampling technologies.

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Some other less common symptoms are kidney and other genital defects, abdominal defects, skeletal defects, cleft palate, and abnormal facial features.

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It can be scary to learn your child has a genetic syndrome. When I found out my child has CES, I was terrified it was my fault and that I wouldn't be able to give them the right resources. I did a lot of research, and can share what I have learned to ease some of your concerns.

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If a child inherited CES, it is because both parents had milder symptoms, meaning the marker chromosome was only in certain cells. This is no reason to blame yourself! CES does not stop your child from living a happy, healthy life!

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Disease management of CES is directed towards the specific symptoms that the patient shows.

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Determined by the severity and threat it poses, congenital heart defects may be treated with medication or surgery. If surgery is required, patients may be subjected to antibiotic therapy before and after the surgery because they run a risk of bacterial infection of the heart lining.

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Again, the treatment depends on the severity of the symptom. Skeletal abnormalities can be treated with physical therapy, and, in extreme cases, surgery.

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Patients may undergo growth hormone therapy if their short stature is severe.

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Families with symptoms of CES or relatives with CES are advised to consult a genetic counselor.