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Genetic and Rare Diseases Information Center (GARD)

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Cri du chat syndrome


Other Names for this Disease

  • 5p deletion syndrome
  • 5p minus syndrome
  • 5p- syndrome
  • Cat cry syndrome
  • Chromosome 5p deletion syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is cri du chat syndrome?

What causes cri du chat syndrome?

Is cri du chat syndrome inherited?

How might cri du chat syndrome be treated?

What is cri du chat syndrome?

Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5.[1][2] Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size, low birth weight, weak muscle tone in infancy, and distinctive facial features.[2] While cri du chat syndrome is a genetic condition, most cases are not inherited.[1][2]
Last updated: 4/13/2010

What causes cri du chat syndrome?

Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions.[2]

The signs and symptoms of cri du chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri du chat syndrome.[2]

 

Last updated: 4/7/2014

Is cri du chat syndrome inherited?

Most cases of cri du chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most affected individuals do not have a history of the disorder in their family.[2] 

About 10 percent of people with cri du chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations  usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri du chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5. This results in the intellectual disability and other health problems characteristic of the disorder.[2]
Last updated: 4/7/2014

How might cri du chat syndrome be treated?

While there is no specific treatment available for cri du chat syndrome, early intervention is recommended in the areas of physical therapy (achieving physical and motor milestones such as sitting and standing up), communication (speech therapy, sign language instruction), behavioral modification (for hyperactivity, short attention span, aggression), and learning (special education).[3] Because symptoms may vary from individual to individual, we recommend discussing these options with a health care professional to develop a personalized plan for therapy.
Last updated: 5/6/2011

References
  1. Learning About Cri du Chat Syndrome. National Human Genome Research Institute (NHGRI). 2009; http://www.genome.gov/19517558. Accessed 4/13/2010.
  2. Cri-du-chat syndrome. Genetics Home Reference (GHR). February 2014; http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome. Accessed 4/7/2014.
  3. Chen H. Cri-du-chat Syndrome Treatment and Management. eMedicine. May 2009; http://emedicine.medscape.com/article/942897-treatment. Accessed 5/6/2011.


Other Names for this Disease
  • 5p deletion syndrome
  • 5p minus syndrome
  • 5p- syndrome
  • Cat cry syndrome
  • Chromosome 5p deletion syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.