Cat Eye Syndrome
Schmid-Fraccaro Syndrome
What is Cat Eye Syndrome?
Cat Eye Syndrome is an abnormality in the ocular region in which the pupil appears to dip down. It is commonly known as Cat Eye Syndrome because many appear to have the pupil shape of a cat (Zoll 1).
The Cause
This rare disorder is caused by a mutation in X chromosome 22. When the short arm (p) and a piece of the long arm (q) are present three or four times rather than twice, this causes Cat Eye Syndrome (Zoll 2).
Symptoms
Ocular
Many people affected by this have missing tissue in the ocular region causing the drooping pupil. This is known a coloboma, but not all those affected by the disease have the signature "key hole" shape pupil. Everyone with this disorder however has affected vision (Kuglar 2,3).
Head
This disorder is also associated with slight outgrowths of skin and depressions in front of the ears. Some people with a severe form of this disorder have a hard time hearing because they have an absence of an external ear canal. The head can also be affected with malformations in the skull or a small jaw. This comes from prenatal growth retardation (Kuglar 2,3).
Other
Another symptom of the Cat Eye Syndrome is an abnormally small anal passage. Some others are heart problems as well as kidney problems but those are not found as commonly as other symptoms (Kuglar 2,3).
Who is at Risk?
As far as doctors have observed, this disorder is very sporadic. Many cases have shown just an error in the dividing sex cells of the parents, but there have been cases in which a parent has mild features of this disorder and their child was affected (Zoll 2). Cat Eye Syndrome is dominant, but does not act the same as many dominant traits. This is because it comes from an abnormal copy of X chromosome 22 (Brands 2). But it is possible for anyone to be affected. These people may have children in the future but it is unknown if their children will be affected as research is not clear on a cause or any cure or treatment other than surgery (Zoll 13).
Diagnosis
It is possible for this disorder to be discovered prenatally. It is possible for an ultrasound to reveal a possibility of a disorder, but the most reliable would be an amniocentesis which requires the doctor to extract some fluid surrounding the fetus and then studied to find any disorders in chromosome structure (Reeser, Donnenfield, Miller, Sellinger, Emanuel, Driscoll 1).
Treatment
The only treatment available is to get surgery for the anus and heart, as well as the eyes to help improve vision even in the slightest. Luckily, those with this syndrome don't have a reduced life expectancy because of such heart problems. Those affected by this do not need any more medical assistance other than these surgeries (Kulgar 11).