Cri-Du-Chat

Katie Sherer

Basic Info

Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The syndrome’s name is based on the infant’s cry, which is high-pitched and sounds like a cat.


Characteristics

People with Cri-Du-Chat disease have a normal life expectancy. But, their daily lives have some difficulties. Some of these difficulties are, not being able to socialize normally, difficulty eating because of swallowing problems, difficulty to move because of poor muscle tone. There are many symptoms for this disease. Small head, low birth weight, low set or abnormally shaped ears, and downward slant to the eyes are some symptoms of this disease. The biggest symptom of Cri-Du-Chat is the high pitched, cat like cry.


Cause

This disease causes the chromosome #5 to be effected. There is a deletion of the 'P' arm causing a frame shift mutation.


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Treatment

There is no actual cure for Cri Du Chat disease, but there is a few treatments. One being, corrective surgeries, for heart defects. Another is gastrostomy, also known as a feeding tube, you perform this to protect the air way from feeding difficulties. Last, these children who have Cri Du Chat are recommended to take a speech help class for speech retardation.


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Fun Facts About Cri Du Chat

  • 80% of Cri Du Chat cases, the chromosome carrying the deletion of the chromosome come from the fathers sperm rather than the mothers egg.
  • Cri Du Chat is French for 'Cry of the Cat', this is because when a baby who has Cri Du Chat cries, it sounds like a high pitched cat like cry.
  • It is thought girls receive this disease more than boys.
  • Cri Du Chat affects 1 in 50,000 babies a year. (50-60 a year)
  • Cri Du Chat Awareness week is May 4-10th, 2014.


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Bibliography