Cat Eye Syndrome Explained

Cat eye syndrome affects several parts of the body which involves the heart, ears, kidneys, and eyes. This is caused by a genetic problem which is more specifically an abnormality in the chromosome.

This syndrome causes a hole in the iris to appear and make a person’s eye look similar to a cat’s. Cat eye syndrome or also known as Schmid-Fraccaro syndrome is a rare condition that affects only 1 in 50,000 people.


Cat eye syndrome can already be diagnosed as early as birth. Symptoms that indicate cat eye syndrome include:

  • Hypertelorism, or eyes that are widely apart
  • Cleft lip or palate
  • Downward slanting of the eye corners
  • Crossed eyes
  • Vision problems
  • Skin tags, or small portions of hanging skin
  • Unusually shaped ears with small holes or pits

This syndrome may also be accompanied by other complications in various parts of the body such as congenital heart defect, curved spine, jaundice, anal atresia, and hearing problems. The child may also experience mild developmental and learning delays, speech problems, stunted growth, or behavior issues.

Cat Eye Syndrome

Causes & Diagnosis

Cat eye syndrome occurs when the 22nd chromosome does not form correctly. To diagnose if a child has cat eye syndrome, the doctor may conduct a blood or bone biopsy. For pregnant mothers, doctors may be able to see early signs of cat eye syndrome through an ultrasound. For confirmatory purposes, an amniocentesis may be conducted by your doctor and have the sample sent to a specialist.

The specialist will then conduct a genetic test to look for any signs of problems in the chromosome. The two kinds of genetic tests that the specialist may do are:

Karyotype: This provides a clear image of the chromosomes organized from smallest to largest. This helps the specialist to detect any abnormalities.
Fluorescence in situ hybridization (FISH): This utilizes a fluorescent dye to mark the chromosomes and enable the doctor to check each of them.

Cat Eye Syndrome


There is no cure for cat eye syndrome since it is caused by a permanent alteration to a chromosome. However, most of the symptoms are manageable.

If your child experiences various symptoms in several parts and systems of the body, a team of doctors may be required to come up with successful treatment options. Treatment may involve:

  • Hormone therapy for growth problems
  • Surgery to treat heart, skeletal, intestinal, or cleft palate problems
  • Physical and occupational therapies for delayed motor skills
  • Speech therapies for speech problems
  • Special education to cope with learning disabilities

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