What is Cri-Du-Chat?
Cri-Du-Chat is French for cry of the cat. The disease got this name because of the distinctive cry of children with this disease, which also sounds like the cry of a cat. This disorder causes mental retardness and some facial features affected by the Genetic disorder. This disorder is because of a deletion on the short arm of Chromosome 5. This disorder fits into the category of chromosomal abnormalities.
Who Discovered This Disorder and When?
A geneticist named Jerome Lejeune discovered Cri-Du-Chat in 1963. Lejeune also discovered the genetic abnormality that causes down syndrome.
Does Cri-Du-Chat impact a person's life expectancy?
As Long as the person has no major organ defects or other major medical conditions, then their life expectancy is completely normal.
The Symptoms of Cri Du Chat
There are many symptoms of the genetic disorder Cri-Du-Chat. Some symptoms are intellectual disability and delayed development. Also, some of the people affected may have a smaller head size, a low birth weight,and weak muscle tone in infancy. In conclusion there are some distinctive facial features having to do with Cri-Du-Chat. Such as widely set eyes that can be droopy, also small jaws and low set ears. There are also some people born with heart defects.
How is Cri- DU- Chat inherited
Most of the cases of the cases of Cri-Du-Chat are not inherited. With this syndrome usually there are some cells that are randomly deleted during the early fetal development stage or during the formation of reproductive cells. In addition there is also another way to get Cri-Du-Chat. This way is very rare and only occurs to about 10% of infected people. They can also get Cri-Du-Chat through s chromosome abnormality from an unaffected parent.
Tests used to diagnose Cri-Du-Chat
Doctors can figure this out with three tell tale signs. These signs are that whenever they are younger they have a cry that sounds much like the cry of the cat. Also, there is usually poor muscle tone and mental retardation. In addition it is possible for a baby to be tested before they are born. This possible because doctors can take some tissue from the outside of the sac where the baby develops and test it or from the amniotic fluid surrounding the baby.
Ways to prevent Cri-Du-Chat and the treatment
Scientists have not found any way to prevent Cri-Du-Chat. Although there are ways to treat it. You can treat it by going to see a therapists. They go to improve there motor skills, language skills, and to help them develop normally.
There is an online website called criduchat.org.uk also the national organization for rare diseases.