Cat Eye Syndrome
What are other names for this disorder?
The other names for this disorder are Schmid- Fraccaro Syndrome, CES and, Chromosome 22 partial tetrasomy.
What causes this disorder?
It's caused by a genetic defect in chromosome 22.
What gene or chromosome is affected by this disorder?
The additional chromosome 22 generally comes from one of the parents.You are only supposed to have 2 copies of the chromosomes, but if you have CES then you have 3 or 4.
Are there parental tests for this disorder?
There are currently no parental tests for this disorder?
What are the symptoms?
The symptoms include wide eyes, small eyes, smaller lower jaw, missing ribs, small head, and missing toes.
What population is affected? Can anyone be a candidate for the disorder?
It affects 1 out of 50,000 people. It can't be just anybody it has to run in the family.
How is it inherited?
It can be inherited from either mom or dad. (Recessive)
What kind of medical assistance will the affected child need? Will further assistance be needed as the child grows older? What is the long term outlook for the affected child?
It depends on the person symptom. Some might need surgery some might just need evaluations and follow- ups. Further assistance will not be needed.
Are there treatments or cures?
There are no known treatments for this disorder, but some of the symptoms can be cured.
Could this disorder have been prevented?
No, it couldn't have been prevented.
Can this individual have children in the future? Will those children be affected?
Yes the person could have kids, but there are chances of that kid getting the disease.
What is the current status of research of this disorder? Is there a cure coming soon?
There is not a cure yet but now if you are born with it, you have to have surgery depending on where it is. They are trying to find a cure right now, but so far there isn't a cure.