Genetic Disorder: Cri Du Chat Syndrome

Cri du chat syndrome is a genetic disorder, also known as 5p- (5p minus) syndrome. This is a very rare disorder 1 in 20,000 to 50,000 newborns are diagnosed with this disorder. It doesn’t matter what ethnic background you are, you could still get this syndrome. It can affect a person both physically and mentally. Most cases of cri du chat syndrome is not inherited from either parent.

One of the main signs of cri du chat syndrome is for the children to have a high- pitched cry that sounds like a cat’s cry. This disorder is harder to diagnose after the age of two, because the cry becomes less noticeable as they get older. Some of the symptoms of cri du chat are small head, round face, a small chin, widely set eyes, fold of skin over their eyes, and a small bridged nose. They may have several problems occurring inside their body , for example heart defects , have difficulty walking and talking, muscular and skeletal problems, and hearing and sight problems.

The genetic changes for cri du chat syndrome are caused by the arm in chromosome 5 to be shorter on the one side than the other side. In most cases, it is caused by the chromosome break which occurs while the egg or sperm cell is developing. In 80% of the cases, the chromosome carrying the deletion comes from the father’s sperm, rather than the mother’s egg. People with this disorder typically have no history of the disorder in their family. In fact, the break is usually a very rare event that it is unlikely to happen again, if the parents have another child.

Doctors do try to treatcri du chat syndrome.Although there is no real treatment for cri du chat syndrome, children with the disorder can go through therapy to improve their language skills, motor skills, and this will help them to develop as normal as possible. The geneticist that identified cri du chat syndrome 1963 also discovered the genetic abnormality that causes Down syndrome. The name of this geneticist Jerome Lejeune.

This is just some of the information you can find on Cri Du Chat syndrome or also known as 5p- syndrome. If you want more information look at my references.

Learn Genetic
Genetic Science Learning Center
The University of Utah (March 14, 2010)
Cri Du Chat Syndrome information
http://learn.genetics.utah.edu/content/disorders/whataregd/edu/

genetics Home Reference. (2010). Cri Du Chat Syndrome information. Retreved from
http://ghr.nlm.nih.gov/condition=criduchatsyndrome