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Cri du chat syndrome
Alternative namesCri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The syndrome's name is based on the infant's cry, which is high pitched and sounds like a cat.
Causes, incidence, and risk factors
The cri du chat syndrome is caused by the deletion of information on chromosome 5. It is likely that multiple genes on chromosome 5 are deleted. One deleted gene, called TERT (telomerase reverse transcriptase) is involved in control of cell growth, and may play a role in how some of the features of cri cu chat develop.
The cause of this rare chromosomal deletion is not known, but it is expected that the majority of cases are due to spontaneous loss of a piece of chromosome 5 during development of an egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation.
Between 1 in 20,000 and 1 in 50,000 babies are affected. This disease may account for up to 1% of individuals with severe mental retardation. Infants with cri du chat syndrome commonly have a distinctive cat-like cry. They also have an extensive grouping of abnormalities with severe mental retardation being the most important.
Signs and testsIn addition to the other findings (listed with Symptoms), physical examination may show:
No specific treatment is available for this syndrome. The mental retardation must be addressed, and counseling is recommended for the parents.
If a child is found to have this syndrome, his parents should have genetic counseling and a karyotype test to make sure that they do not have rearranged chromosomes that predispose to the child missing part of chromosome 5.
Support Groups5p- (pronounced 5p minus) Society 1-888-970-0777; www.fivepminus.org
Expectations (prognosis)The outcome varies but mental retardation is the norm. Half of children learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent with time.
ComplicationsComplications depend on the extent of mental retardation and physical abnormalities.
Calling your health care providerThis is a diagnosis that is generally made in the hospital at birth. Your health care provider will discuss the findings with you. On discharge, it's important to maintain regular contact with your health care provider and other care givers. Genetic counseling and testing is recommended for all families with a history of this syndrome.
PreventionThe exact cause of this genetic disorder is unknown; therefore prevention is also unknown.
Update Date: 8/6/2003Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT