Medical Information
- Cri du Chat is a rare disorder due to a missing part in chromosome 5.
- The disorder is caused by a break in a DNA molecule that makes a chromosome. The chromosome break happens when the egg cell or sperm is developing. When the gamete is fertilized, then the child will start to develop cri du chat. Also it is possible to inherit a broken chromosome from a parent who has had it.
- About 10 percent of people who have Cri Du Chat inherit it from their parents. In this case, the parent carries a chromosomal rearrangement that is called a balanced translocation. This happens from missing genetic material in the short arm of chromosome 5.
- This is a rare disease and anyone can get it. Affects around one in fifty-thousand children. Although it is one of the most common diseases that involves chromosome deletion. It affects all groups of people.
- The disease is not very common. It is over 7 times more rare than down syndrome.
- The disease is diagnosed by the catlike cry from infants. Other ways to check is poor muscle tune and mental retardation. This disorder can be diagnosed in the womb by a CVS test or doctors can test a sample of amniotic fluid.
- Feeding problems because of difficulty sucking and swallowing
- Low birth weight and bad growth
- Behavior problems like: hyperactivity, tantrums, aggression, and repetitive movements
- Unusual facial features, these could change over time
- Excessive drooling
- Small jaw and head
- Constipation
- Folds of skin under their eyes
- Wide eyes
- There is no treatment available for this disorder. They may go though therapy to help the symptoms but that's about it.
- The cry tends to go away after the age of 2, after that they are just left with the symptoms. But an individual can live a normal life with Cri du Chat.
- Individuals with Cri du Chat will have a normal life expectancy and can live a happy life.
- Currently there are no treatments or cures for the disease, however, going to the doctor and getting some therapy can help ease the symptoms. Also cardiac abnormalities can be corrected by surgical correction.
- There is currently no major research being conducted on this disorder.