How Does Cri Du Chat Affect The Family

Brie

2 Jun, 2021

Cri du chat syndrome occurs because there is the loss of genetic material deletion of a portion of the short arm of one of the fifth chromosomes. Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5.

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How does cri du chat affect the family. Cri du chat syndrome gets its name from the characteristic cry of affected infants which is similar to that of a meowing kitten due to problems with the larynx and nervous system. These may include low birth weight skin folds over the eyes a small head a round face a small jaw wide set eyes low set ears an undersized bridge of the nose and digits that are webbed or fused together. 5p syndrome is a chromosomal deletion disorder resulting in a wide spectrum of intellectual and developmental abilities.

These individuals will likely need a lifetime of support. Studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. Cri du chat is french for cry of the cat the word syndrome means a group of symptoms that together are characteristic of a specific disorder.

This chromosomal change is written as 5p. Cri du chat syndrome is a rare genetic disorder caused by missing pieces on a particular chromosome. People with cri du chat typically have no history of the condition in their family.

The size of the deletion varies among affected individuals. The chromosomal deletion usually occurs as a random event during the formation of reproductive cells eggs or sperm or in early fetal development. It provides information and support to anyone affected by cri du chat syndrome in the uk or abroad.

Cri du chat syndrome results from the loss or deletion of a significant portion of the genetic material from the short arm of one of the pair of number five chromosomes. Cri du chat syndrome is also known as 5p minus syndrome le jeunes syndrome and cats cry syndrome. Cri du chat syndrome occurs in an estimated 1 in 20000 to 50000 newborns.

Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Each year in the united states approximately 50 to 60 children are born with 5p syndrome also known as cri du chat syndrome. Cri du chat syndrome is caused by a deletion of the end of the short p arm of chromosome 5.

Cri du chat syndrome has many affects on the body. Most cases of cri du chat syndrome are not inherited. Chromosome deletion results in missing genes that can cause a variety of abnormalities.

The characteristics of a newborn with cri du chat syndrome include a high pitched cry a small head and a flattened bridge of. It is not the result of anything the parents have done or failed to do. The group offers an annual family weekend for families carers and professionals.

Cri du chat syndrome is found in people of all ethnic backgrounds. The syndrome is called cri du chat french for cry of the cat because affected babies often have a high pitched cry.

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