Cat eye syndrome

What is cat eye syndrome?

What is cat eye syndrome?

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

It gets its name from the fact that one of the most common symptoms is cat-like eyes. This is because there is a hole in the iris.

Symptoms

Cat's eye syndrome affects how certain parts of a baby's body are formed before they are born. Symptoms you may see include:

  • Cleft lip or palate
  • Crossed eyes
  • Downward slant to corners of the eyes
  • Eyes that are spaced widely apart
  • 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 may also have mild developmental or learning delays, behavioral problems, or speech problems. They may also be below average height.

Causes

Cat's eye syndrome occurs when there is a problem with chromosome 22. Doctors don't know why it doesn't form properly. It is rarely passed on from parents, but it is possible.

Diagnostics

To make sure your child has cat's eye syndrome, the doctor may test a tissue sample. They will take blood or biopsy the bone.

If you are pregnant, your doctor may see signs of cat's eye syndrome during an ultrasound, which uses high-frequency sound waves to create detailed images of your baby.

If they think your child may have it, they may perform an amniocentesis. Or they may recommend a chorionic villus biopsy. Your doctor will take a small sample of the placenta from your abdomen using a needle or from your vagina using a small, thin tube called a catheter.

The sample will be sent to a specialist who will look for signs of a problem chromosome. A specialist can perform two types of genetic tests:

  • Karyotype: This gives your doctor a picture of the chromosomes arranged from smallest to largest. This helps them see any anomalies.
  • Fluorescent in situ hybridization: This uses a fluorescent dye to label chromosomes so doctors can see them.

Treatment

Cat's eye syndrome cannot be cured because it is caused by an irreversible change in the chromosome. But many symptoms can be treated.

Since your child may have symptoms in different parts and systems of the body, you will need a team of doctors to treat them. Treatment may include:

  • Surgery to correct heart, bowel, skeletal or cleft palate problems
  • Hormone therapy for growth problems
  • Physiotherapy or occupational therapy for motor delay
  • Speech therapy for speech problems
  • Special education to help cope with learning difficulties.

Cat eye syndrome affects everyone differently. Your child's long-term outlook depends on the severity of their symptoms.


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