Cat Eye Syndrome

By Alyssa LaRowe


Cat eye syndrome, named after how it affects the appearance of the eyes, is caused by a genetic defect in chromosome 22. There is a wide range of symptoms associated with the syndrome. Cat eye syndrome affects both males and females, and is estimated to occur in 1 in 74,000 individuals. Many individuals born with the syndrome are the only ones in their families who have it.

Other names for Cat Eye Syndrome

  • Schmid-Fraccaro Syndrome

  • Partial Tetrasomy 22

  • Inv Dup(22)(q11)

Cause of Cat Eye Syndrome

Caused by a genetic defect in chromosome 22.

Prenatal Tests

Ocular coloboma cannot be corrected. However, eyesight can be improved using prescription eyewear in mild cases. In addition, heart and anal malformations and hernias can usually be corrected using surgery. Skin tags can also be removed by simple procedures.


  • Absence of tissue from the colored part of one or both eyes

  • Small growths of skin tags or depressions in the skin pits of the outer ears

  • An absence or obstruction of the anus

  • Downward slanting openings between the upper and lower eyelids

  • Defects of the urinary tract or kidneys

  • Short stature


Estimated at approximately one in 50,000 to 150,000 individuals have/get cat eye syndrome.

How is it inherited?

The extra 22 chromosome usually comes from one of the parents, making this an inherited gene which is present at birth.

Medical Assistance

Life expectancy is not significantly reduced in those individuals who do not have life-threatening physical problems such as severe heart defect.

Treatment? Cure?

Some children may need surgery to repair birth defects in the anus or heart.

Can it be prevented?

Complications associated with the syndrome can be treated, and a great deal can be done to provide support and compensate for disabilities.

Can this individual have children? Will they be affected?

Sometimes it will be passed down and sometimes it won’t be.

Is there a cure?

It can be treated but not cured.