Cri du chat syndrome
Other Names for this Disease
- 5p deletion syndrome
- 5p minus syndrome
- 5p- syndrome
- Cat cry syndrome
- Chromosome 5p deletion syndrome
What causes cri du chat syndrome?
Is cri du chat syndrome inherited?
How might cri du chat syndrome be treated?
Are skeletal anomalies common among children with 5p deletion 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.
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.
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.
- Learning About Cri du Chat Syndrome. National Human Genome Research Institute (NHGRI). 2009; http://www.genome.gov/19517558. Accessed 4/13/2010.
- Cri-du-chat syndrome. Genetics Home Reference (GHR). February 2014; http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome. Accessed 4/7/2014.
- Chen H. Cri-du-chat Syndrome Treatment and Management. eMedicine. May 2009; http://emedicine.medscape.com/article/942897-treatment. Accessed 5/6/2011.
- National Organization for Rare Disorders (NORD). Cri Du Chat Syndrome. Last updated: 06/14/2011; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/19/viewAbstract. Accessed 9/19/2014.
- Paola Cerruti Mainardi. Cri Du Chat Syndrome. September 5, 2006; 1:33:1-9. http://www.ojrd.com/content/pdf/1750-1172-1-33.pdf. Accessed 9/19/2014.