Categories: Diseases & Conditions

Are You Missing a Chromosome? A Look at Cri-du-chat Syndrome

Chromosomes, large molecules of our DNA that make up who we are and encode our development as humans. Some genes are passed down from mother to child and even father to child, and this continues for centuries. However, sometimes a chromosome becomes missing.

One of the most common deletions of a chromosome is that of chromosome 5. Chromosome 5 is just one chromosome of 23 pairs of chromosomes in humans and is one of the largest. This chromosome normally has two copies of it and contains up to thirteen hundred genes.

Chromosome 5 is responsible for adding the strength and support to many of our body tissues, it acts as a tumor suppressor, an early growth response system, wound healing, and embryonic development just to name a few.

Cri-du-chat syndrome is recognizable in infants based on the way they cry. One of the main symptoms is a high pitched cry that sounds almost like a cat. Cri-du-chat syndrome is sometimes called Cat Cry syndrome.

This is a very rare disease that is caused by many of the chromosome 5 genes to be missing and or deleted. This illness is so rare that it only affects 1 in twenty to fifty thousand babies and normally occurs during the development of an egg or a sperm.

Physical features are extremely altered because of this illness, such as; a round full face, eyes that are widely spread apart, extra folds of skin that grow at the inner corners of the eyes, the bridge of the nose is flat and widened and the ears are situated low on the skull. Malformations of the larynx have been detected. There could also be partial webbing or combining of the fingers and toes.

The majority of children that have Cri-du-chat have several troubles in controlling their motor skills and difficulty in sleeping. Near sightedness, dancing eyes, and optic nerve abnormalities. Certain sounds can also cause distress for the child such as; loud clapping of some sort or even airplanes.

Language and or communication are very hard for children with this illness because they are inclined to grow that era of talent leisurely and frequently converse by means of sign language or a form of animated speech.

Tantrums are also a consistent as part of a reaction or symptom of Cri-du-chat syndrome. This is just an example of many behavioral problems that are associated. Some behavior can even be compulsive and self injurious.

So how can you treat something like this? Well, unfortunately, you can’t. According to most doctors, they suggest that the condition be addressed and that the parents go through a type of counseling to deal with the retardation as well as learn how to care for their child properly. Many doctors also suggest that the parents go through testing to identify where the genetic break may have adapted from.

In conclusion, we never really stop to think about our genetics or our chromosomes, their just there. Many spend very little time thinking about what exactly made them to be who they are and it is very sad when a rare situation like this comes along where we are forced to learn about the possibilities out there that could damage our existence.

Especially because this syndrome has no known way of being prevented, but is suggested that if your family does have a history of this illness, before considering on having children it is best to seek out genetic counseling. So, take care of yourself by learning about what makes you, who you are, it may assist others one day.