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Genetics Home Reference: your guide to understanding genetic conditions
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Cri-du-chat syndrome

Reviewed February 2014

What is cri-du-chat syndrome?

Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) 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, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are 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.

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.

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.

Related Chromosome(s)

Changes involving this chromosome are associated with cri-du-chat syndrome.

  • chromosome 5

Related Gene(s)

Changes in this gene are associated with cri-du-chat syndrome.

  • CTNND2

Can cri-du-chat syndrome be 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. 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 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, which results in the intellectual disability and health problems characteristic of this disorder.

Where can I find information about diagnosis or management of cri-du-chat syndrome?

These resources address the diagnosis or management of cri-du-chat syndrome and may include treatment providers.

  • Cri du Chat Syndrome Support Group (UK): Diagnosis (http://criduchat.org.uk/information/signposts/diagnosis.html)
  • Cri du Chat Syndrome Support Group (UK): Therapies (http://criduchat.org.uk/information/therapies/therapies.html)
  • Genetic Testing Registry: 5p partial monosomy syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0010314)
  • MedlinePlus Encyclopedia: Cri du Chat Syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm)

You might also find information on the diagnosis or management of cri-du-chat syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/cri-du-chat-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/cri-du-chat-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

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.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for cri-du-chat syndrome?

  • cat cry syndrome
  • chromosome 5p- syndrome
  • 5p deletion syndrome
  • monosomy 5p
  • 5p- syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about cri-du-chat syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding cri-du-chat syndrome?

chromosome ; deletion ; developmental delay ; disability ; gene ; hypertelorism ; hypotonia ; inherit ; inherited ; microcephaly ; monosomy ; muscle tone ; rearrangement ; reproductive cells ; sperm ; syndrome ; translocation

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis. 2006 Sep 5;1:33. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16953888?dopt=Abstract)
  • Hills C, Moller JH, Finkelstein M, Lohr J, Schimmenti L. Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium. Pediatrics. 2006 May;117(5):e924-7. Epub 2006 Apr 3. (http://www.ncbi.nlm.nih.gov/pubmed/16585274?dopt=Abstract)
  • Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, Provera S, Pierluigi M, Bricarelli FD. The natural history of Cri du Chat Syndrome. A report from the Italian Register. Eur J Med Genet. 2006 Sep-Oct;49(5):363-83. Epub 2006 Jan 13. (http://www.ncbi.nlm.nih.gov/pubmed/16473053?dopt=Abstract)
  • Mainardi PC, Perfumo C, Calì A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet. 2001 Mar;38(3):151-8. (http://www.ncbi.nlm.nih.gov/pubmed/11238681?dopt=Abstract)
  • Rodríguez-Caballero A, Torres-Lagares D, Rodríguez-Pérez A, Serrera-Figallo MA, Hernández-Guisado JM, Machuca-Portillo G. Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal. 2010 May 1;15(3):e473-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20038906?dopt=Abstract)
  • Sigafoos J, O'Reilly MF, Lancioni GE. Cri-du-chat. Dev Neurorehabil. 2009 Jun;12(3):119-21. doi: 10.1080/17518420902975720. (http://www.ncbi.nlm.nih.gov/pubmed/19466618?dopt=Abstract)
  • Wu Q, Niebuhr E, Yang H, Hansen L. Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. Eur J Hum Genet. 2005 Apr;13(4):475-85. (http://www.ncbi.nlm.nih.gov/pubmed/15657623?dopt=Abstract)
  • Zhang X, Snijders A, Segraves R, Zhang X, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet. 2005 Feb;76(2):312-26. Epub 2005 Jan 4. (http://www.ncbi.nlm.nih.gov/pubmed/15635506?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2014
Published: October 27, 2014