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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cri du chat syndrome


Other Names for this Disease
  • Cat cry syndrome
  • 5p minus syndrome
  • Chromosome 5p deletion syndrome
  • 5p- syndrome
  • Monosomy 5p
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

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: 2/22/2015

References

  1. Learning About Cri du Chat Syndrome. National Human Genome Research Institute (NHGRI). April 18, 2013; http://www.genome.gov/19517558. Accessed 2/22/2015.
  2. Cri-du-chat syndrome. Genetics Home Reference (GHR). February 2014; http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome. Accessed 2/22/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Cri du chat syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cri du chat syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

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