What are the symptoms for Cat eye syndrome?

Symptoms

• Cleft lip or palate.
• Crossed eyes.
• Downward slant to corners of the eyes.
• Eyes that are spaced widely apart (hypertelorism)
• Skin tags (small pieces of hanging skin)
• Small holes, or pits, in front of the ears.
• Unusually shaped ears.

Is Cat eye syndrome fatal?

Outlook for people with cat eye syndrome Treatment for individual symptoms in these cases can prolong life. Some people with CES will have severe malformations in early infancy, which can lead to a much shorter life expectancy. However, for most people CES, life expectancy usually isn’t reduced.

What causes the disorder Cat eye syndrome?

Causes and symptoms Cat eye syndrome is a rare genetic condition caused by the short arm (p) and tiny region of the long arm (q) of chromosome 22 being duplicated three (trisomy) to four (tetrasomy) times instead of twice. The syndrome’s name comes from the eye abnormalities that are commonly linked with it.

What happens to the body with Cat eye syndrome?

Cat eye syndrome is a chromosome abnormality that affects many different parts of the body. The signs and symptoms of the condition vary widely but may include abnormalities of the eyes, ears, anal region, heart, and/or kidney.

What treatments are there for cat eye syndrome?

There is no cure for cat eye syndrome, as it is a permanent defect in the chromosome. Treatment relies solely on which symptoms your child exhibits and may include: Surgery to correct cleft lip/palate, skeletal abnormalities, anal atresia and other physical and internal issues.

What kind of medical assistance is needed for cat Cry syndrome?

There is no specific treatment for cri-du-chat syndrome. You can help manage symptoms with physical therapy, language and motor skill therapy, and educational intervention.

What can be done for a person with cat eye syndrome?

Who is affected by cat eye syndrome?

Cat eye syndrome affects both males and females and is estimated to occur in one in 50,000 to one in 150,000 individuals. 1 If you have CES, you are most likely the only one in your family to have the condition since it’s a chromosomal abnormality as opposed to a gene.

Is there a treatment for cat eye syndrome?

Can people with cat’s cry syndrome have kids?

It usually happens by chance, but in some cases it’s inherited. If you have a child with Cri du Chat syndrome, you can have your own chromosomes tested if you’re thinking of having more children. The syndrome is a rare condition. It happens in around 1 in 25 000-50 000 births.

Who does cat eye syndrome affect?

How was cat eye syndrome discovered?

The first report on the association of coloboma and anal atresia with a small extra chromosome came from Schmid in Zurich and Fraccaro in Pavia (Schachenmann et al., 1965). These authors proposed the term cat eye syndrome, in analogy with the cat cry or cri-du-chat syndrome (123450).

Is Cat Eye Syndrome a disability?

In general the abnormalities associated with CES tend to involve the eyes, ears, anal region, heart, and/or kidneys, but other organs may show involvement and some people show intellectual disability.

https://www.youtube.com/watch?v=TcEwtrM76Kk