What Is Cat Eye Syndrome?

Cat eye syndrome can affect many parts of the body, including eyes, ears, heart, and kidneys. It’s caused by a problem with a chromosome, so people are born with it.

It gets its name because one of the most common symptoms is that the eyes look similar to a cat’s. This is because there’s a hole in the iris (the colored part of your eye).

Only between 1 in 50,000 and 1 in 150,000 people in the world have it. It’s also called Schmid-Fraccaro syndrome.

Symptoms

Cat eye syndrome affects the way certain parts of a baby’s body are formed before they are born. Symptoms you can see include:

• Cleft lip or palate
• Crossed eyes
• Downward slant to corners of the eyes
• Eyes that are spaced widely apart (hypertelorism)
• Skin tags (small pieces of hanging skin)
• Small holes, or pits, in front of the ears
• Unusually shaped ears

A child born with this condition also may have:

• Anal atresia — the anus doesn’t form correctly and is missing an opening
• Congenital heart defect — the heart doesn’t form right before birth
• Curved spine (scoliosis), fused vertebrae, missing ribs, or dislocated hips
• Jaundice or other liver problems
• Kidney and urinary tract issues
• Problems seeing clearly
• Trouble hearing because of the way the ears are shaped

The child also might have mild developmental or learning delays, behavior issues, or problems with speech. They also may be below average height.

Causes

Cat eye syndrome happens when there’s a problem with the 22nd chromosome. Doctors aren’t sure why it doesn’t form correctly. It’s rarely passed down from the parents, but it’s possible for it to happen that way.

Diagnosis

To be sure your child has cat eye syndrome, the doctor can test a sample of tissue. They’ll take some blood or do a bone biopsy (take out some bone marrow with a needle).

If you’re pregnant, your doctor may see signs that your child has cat eye syndrome on an ultrasound, which uses high-frequency sound waves to make detailed images of your baby.

If they think your baby might have it, they can follow up with amniocentesis — they’ll take fluid from your womb with a long needle. Or they might recommend chorionic villus sampling (CVS). Your doctor would take a small sample of the placenta through your abdomen with a needle or through your vagina with a small, thin tube called a catheter.

The sample would be sent to a specialist, who would look for signs of the problem chromosome. The two types of genetic tests the specialist might do are:

• Karyotype: This gives your doctor a picture of the chromosomes arranged from smallest to largest. It helps them see any abnormalities.
• Fluorescence in situ hybridization (FISH): This uses fluorescent dye to mark the chromosomes so doctors can see them.

Treatment

Cat eye syndrome can’t be cured because it’s caused by a permanent change to a chromosome. But many of the symptoms can be treated.

Because your child may have symptoms in different parts and systems of their body, you’ll need a team of doctors to help treat them. Treatment may include:

• Surgery to correct heart, intestinal, skeletal, or cleft palate problems
• Hormone therapy for growth problems
• Physical or occupational therapy for delayed motor skills
• Speech therapy for problems with talking
• Special education to help deal with learning disabilities

Cat eye syndrome affects everyone differently. Your child’s long-term outlook depends on how severe their symptoms are.