Cat Eye Syndrome


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1. Name of Disorder

Cat Eye Syndrome

2. What other names are there for this disorder? (any common names)?

Cat Eye Syndrome is also known as TAPVR.

What causes the disorder?

Patients with Cat Eye Syndrome have multiple copies of the long and short arms of chromosome 22.

Which gene or chromosome is affected by the disorder? (x, y, chromosome 21)

Cat eye syndrome is a rare disorder associated with the presence of an extra chromosome fragment in the body. The mutation is found on chromosome 22.

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Are there prenatal tests for this disorder? If yes, what are they?

There is a prenatal test for this disorder, they use the ultrasound if they suspect cat eye syndrome before birth.

What are the symptoms?

Some of the symptoms are:

  • downwardly slanting in the eyelid folds
  • vertical skin folds that may cover the inner corner of the eye
  • wide spaced eyes
  • misshapen ears

What population is affected? Can anyone be a candidate for the disorder?

This disorder can affect anyone.

How is it inherited? (sex-linked, dominant, recessive)

It could be passed for generations from parent to offspring and also be passed on through chromosomes.

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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?

Some of the children that are affected by this disorder will need a professional pediatricians, surgeons, and a heart specialist (cardiologist). and I do think some of these people need to have further assistance as the child gets older. The long- term outlook for the children that have this disorder is that they will need surgery done.

Are there any treatments or cures?

Some of the treatments are eye specialist, there is no medication for the disorder, and other treatments and this disorder has no cure.

Could this disorder have been prevented? If so, how?

I do not think this disorder could have been prevented if it was passed on from a family from long ago.

Can this individual have children in the future? Will those children be affected?

I think the children that have this disorder if got cured when they got older they could have children in the future.

What is the current status of research of this disorder? Is there a cure coming soon?

I think there will be a cure in the future. the current status of the research of this disorder is underway.