Cat Eye Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Cat Eye Syndrome?
A medical geneticist (a doctor who treats inherited conditions) usually leads the care. Babies and children may also see a heart doctor (cardiologist), an eye doctor (ophthalmologist), and a surgeon. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Cat Eye Syndrome?
Cat eye syndrome is a rare genetic disorder present from birth. It is also called Schmid-Fraccaro syndrome. The name comes from an eye finding that some people have. It is an iris coloboma, a gap or split in the colored part of the eye. It can make the pupil look like a keyhole.
The condition comes from extra genetic material on chromosome 22. Most people have two copies of each chromosome. In cat eye syndrome, each cell has one small extra chromosome made of copied material from chromosome 22. Doctors call this a partial tetrasomy or trisomy. The extra material affects many parts of the body.
Symptoms
Signs vary a lot from person to person. No single feature is present in everyone. Common features include:
- An iris coloboma. This is a gap in the colored part of the eye. It affects about half of people with the condition.
- Small skin tags or pits (tiny openings) in front of the ears, and unusually formed ears.
- Anal atresia, meaning the anus, the opening at the end of the bowel, did not fully form. This happens in about 30 to 50 percent of cases.
- Heart defects, such as holes between the heart chambers. These occur in about half of cases.
- Kidney problems or other urinary tract issues.
- Skeletal problems, such as spine curvature (scoliosis) or limb differences.
- Hearing loss, which can happen when the middle ear does not form normally.
- Developmental delays, or mild to moderate intellectual disability, in about one third of children.
Causes and who gets it
Cat eye syndrome comes from a chromosomal change called an inverted duplicated 22. A small extra chromosome forms. It carries copied material from chromosome 22. This gives the body three or four copies of some genes instead of the usual two.
Most cases happen by chance and are not inherited. Boys and girls are affected equally. Some children have mild signs and are not diagnosed until later, while others have severe problems at birth.
How doctors diagnose it
Doctors suspect the condition from the pattern of physical signs. A karyotype, a lab test that pictures the chromosomes, usually shows the extra chromosome. A test called FISH (fluorescence in situ hybridization) uses a glowing probe to find the copied 22q11 region and can also find milder mosaic forms, where only some cells carry the extra material. Genetic testing confirms the diagnosis. Doctors also check the heart, kidneys, eyes, and hearing to map every affected organ.
Treatment
There is no cure for cat eye syndrome. Care is supportive and depends on which organs are affected. A heart defect may need surgery, sometimes in infancy. Anorectal problems are often repaired with surgery. Eye treatment can include glasses, patching therapy for a lazy eye, or surgery for some eye problems. Hearing loss may be treated with hearing aids. Many children need therapy for movement, speech, or daily skills. Some benefit from growth hormone therapy for short stature.
When to see a doctor
Call 911 or go to the emergency room if a baby has a bluish skin color. Bluish skin can mean the heart is not pumping oxygen well. A baby who has trouble feeding or is not gaining weight needs care right away. Also see a doctor promptly for a new heart murmur, repeated urinary infections, vision changes, or developmental delays.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can track growth and development over time, manage everyday health needs, and help coordinate visits with the many specialists a child may need.
Common questions
Why is it called cat eye syndrome?
Some people have an iris coloboma, a gap in the colored part of the eye. It can make the pupil look like a cat's eye or a keyhole. Only about half of people with the syndrome have this sign, and many people with the syndrome have normal-looking eyes.
Is cat eye syndrome inherited?
Most cases are not inherited. They happen by chance when the extra chromosome forms during early development. Rarely, a parent carries the extra chromosome and can pass it on. Genetic counseling can help families understand the chance of it happening again.
Can people with cat eye syndrome live normal lives?
Many can. The outlook is usually favorable but depends on which organs are affected, especially the heart. Most children with intellectual disability have only mild to moderate delays. Many adults lead independent lives, though some need support for learning or lasting organ problems.
Can cat eye syndrome be cured?
No. There is no cure, and care is entirely supportive. Treatment aims to fix or manage each problem, such as heart defects, vision, hearing, and development. With coordinated care, many children do well.
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Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
