Cri du chat Syndrome

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Information of Cri du chat Syndrome

Cri du chat syndrome is widely known as an autosomal deletion syndrome. It is of genetic nature. This syndrome results from a partial missing short arm of chromosome number 5. The name of Cri du chat syndrome is derived from the fact that the characteristic Cry of infants is similar to the mewing of baby cat (kittens).

The abnormal larynx and other central nervous system disorders are responsible for the cat like cry in infants. Most infants and children with Cri du chat syndrome die in early childhood.

Cause of Cri du chat Syndrome

The main cause of Cri du chat syndrome is missing arm of chromosome 5.

• The cause of Cri du chat syndrome is genetic. The cause of cri du chat syndrome is partial deletion of information on chromosome 5. Sometimes multiple genes on chromosome 5 may be missing.
• In most of the cases, deleted chromosome is from paternal side.
• The deleted chromose 5 may vary from one arm to a small portion known as 5p15. In most of the cases around 30 to 60% of the arm of chromosomes is deleted.
• Telomerase reverse transcriptase gene is responsible for cell growth, if found missing, may develop symptoms characteristics to abnormal growth.
• The probablity of Cri du chat syndrome is pretty less. The risk of affecting cri du chat syndrome affects one in around 50,000 births. These babies can be diagnosed for cri du chat syndrome by their high pitch cat like cry.

Symptom of Cri du chat Syndrome

• Microcephaly,
• Hyperteleorism,
• Typical cat-like cry,
• Failure to thrive.

Treatment and care of Cri du chat Syndrome

There are no treatment avaliable for Cri du chat syndrome. Although cri du chat syndrome has no specific treatment, there are various possibilities to support the patients, treat the symptoms wherever possible and if necessary apply the surgical methods. Medical problems such as respiratory, feeding problems and constipation should be treated.

Counseling to improve behavioral problems and difficulties should be focused. Cardiac related problems should be rectified by medicine or surgical method as soon as possible to avoid further complications. The mental retardation in children should be addressed.

Prognosis of Cri du chat Syndrome

• The cat like cry will go on for years.
• Many children can develop some language skills.

Some of the children are able to communicate verbally of through gesture. Some children may develop some social skills and will be able to develop self-care skills. Cat like cry will go after few years.

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Site last updated: March 4, 2008