20, April 2014
Cri Du Chat Syndrome, also known as 5p minus syndrome is a chromosomal condition. This condition occurs when a fraction of chromosome 5 is missing. This disorder is said to cause intellectual disabilities and delayed development. Infants who suffer from this syndrome are also most likely to have a small head size, low birth weight, and weak muscle tone. Affected persons also have incredibly distinctive facial features such as widely set eyes, low set ears, small jaws, and rounded faces. In incredibly rare cases, children with cri-du-chat syndrome can also be born with a defected heart.
Cri-du-chat syndrome is in incredibly rare diseases that according to estimations affect 1 in 20,000 to 50,000 newborns (http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome). Cri-du-chat syndrome is found in all ethnic backgrounds. Cri-du-chat syndrome is not an inherited gene. The effected chromosome becomes defected at random during the formation of reproduction cells or in the early stages of fetal development. Affected individuals usually have no past family member with the same disorder.
Some cases occur when a parent passes a different, rearranged form of the chromosome onto their child. An estimated 10 percent of individuals with cri-du-chat syndrome inherit the chromosome irregularity from an unaffected parent. In cases such as these, the parent carries a chromosomal redisposition called a balanced translocation, in which no genetic material is gained or lost(http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome).
Cri du Chat is French for “cry of the cat.” Symptoms include a cry that is high pitched and sounds cat like, downward slanted eyes, partial webbing or fusing of fingers or toes, single line in the palm of the hand, and skin tags in front of the ear (http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm). At this point do its rare occurrence, there is no specific treatment for the deformity itself but doctors are able to suggest ways to treat and manage the symptoms. The syndrome is…