Cri du Chat Syndrome

Common Name(s)

Cri du Chat Syndrome, Cri du Chat Syndrome (5p-), Chromosome 5p-

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. 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. While cri du chat syndrome is a genetic condition, most cases are not inherited.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cri du Chat Syndrome" for support, advocacy or research.

5p- Society

Our mission is to encourage and facilitate communication among families having a child or adult with 5p-syndrome and to spread awareness and education of the syndrome to these families and their service providers.

Last Updated: 28 Apr 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cri du Chat Syndrome" for support, advocacy or research.

5p- Society

Our mission is to encourage and facilitate communication among families having a child or adult with 5p-syndrome and to spread awareness and education of the syndrome to these families and their service providers.

http://www.fivepminus.org

Last Updated: 28 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cri du Chat Syndrome" returned 32 free, full-text research articles on human participants. First 3 results:

Brain stem hypoplasia associated with Cri-du-Chat syndrome.
 

Author(s): Jin Ho Hong, Ha Young Lee, Myung Kwan Lim, Mi Young Kim, Young Hye Kang, Kyung Hee Lee, Soon Gu Cho

Journal: Korean J Radiol. ;14(6):960-2.

 

Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly ...

Last Updated: 22 Nov 2013

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A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.
 

Author(s): Heng Gu, Jian-hui Jiang, Jian-ying Li, Ya-nan Zhang, Xing-sheng Dong, Yang-yu Huang, Xin-ming Son, Xinyan Lu, Zheng Chen

Journal:

 

Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex ...

Last Updated: 21 Oct 2013

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Determination of periodontopathogens in patients with Cri du chat syndrome.
 

Author(s): Sofía Ballesta-Mudarra, Guillermo Machuca-Portillo, Daniel Torres-Lagares, Ángela Rodríguez-Caballero, Rosa-María Yáñez-Vico, Enrique Solano-Reina, Evelio Perea-Pérez

Journal:

 

Cri du chat syndrome is a genetic alteration associated with some oral pathologies. However, it has not been described previously any clinical relationship between the periodontal disease and the syndrome. The purpose of this comparative study was to compare periodontopathogenic flora ...

Last Updated: 4 Nov 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cri du Chat Syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Cri du chat syndrome: a critical review.
 

Author(s): Angela Rodríguez-Caballero, Daniel Torres-Lagares, Antonio Rodríguez-Pérez, María-Angeles Serrera-Figallo, José-María Hernández-Guisado, Guillermo Machuca-Portillo

Journal:

 

A new syndrome was identified in 1963, when Lejeune et al. reported a genetic disease resulting from a partial or total deletion on the short arm of chromosome 5 (5p-) and named it the cri du chat syndrome (CdCS). This term makes reference to the main clinical feature of the syndrome, ...

Last Updated: 3 May 2010

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Cri du Chat syndrome.
 

Author(s): Paola Cerruti Mainardi

Journal:

 

The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, ...

Last Updated: 25 Sep 2006

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
 

Status: Recruiting

Condition Summary: Microdeletion Syndromes; Trisomy 21; Trisomy 18; Trisomy 13; Sex Chromosome Abnormalities

 

Last Updated: 28 Oct 2014

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Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood
 

Status: Recruiting

Condition Summary: Trisomy 21; Trisomy 18; Trisomy 13; Sex Chromosome Abnormalities; Microdeletion Syndromes

 

Last Updated: 27 Aug 2014

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