Reviewed January 2007
What is cri-du-chat syndrome?
Cri-du-chat (cat's cry) syndrome, also known as 5p- syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. 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, distinctive facial features, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Some children with cri-du-chat syndrome are also born with a heart defect.
How common is cri-du-chat syndrome?
Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds and is slightly more common in females.
What are the genetic changes related to 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; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions in people with cri-du-chat syndrome.
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 identify additional genes in this region and determine how their loss contributes to the characteristic features of cri-du-chat syndrome.
Read more about the CTNND2 gene and chromosome 5.
Can cri-du-chat syndrome be inherited?
Most cases of cri-du-chat syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.
About 10 percent of people with cri-du-chat syndrome inherit the chromosome with a deleted segment 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 medical 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, which results in birth defects and other health problems characteristic of this disorder.
Where can I find information about treatment for cri-du-chat syndrome?
These resources address the management of cri-du-chat syndrome and may include treatment providers.
You might also find information on treatment of cri-du-chat syndrome in
Educational resources and Patient support.
Where can I find additional information about cri-du-chat syndrome?
You may find the following resources about cri-du-chat syndrome helpful. These materials are written for the general public.
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- Additional NIH Resources - National Institutes of Health
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You may also be interested in these resources, which are designed for healthcare professionals and researchers.
- Gene Tests - DNA tests ordered by healthcare professionals
- PubMed - Recent literature
- OMIM - Genetic disorder catalog
What other names do people use for cri-du-chat syndrome?
- Cat cry syndrome
- Chromosome 5p- Syndrome
- 5p Deletion Syndrome
- monosomy 5p
- 5p- Syndrome
What if I still have specific questions about cri-du-chat syndrome?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding cri-du-chat syndrome?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.