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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 38 free, full-text research articles on human participants. First 3 results:

Electroclinical and cytogenetic features of epilepsy in cri-du-chat syndrome.
 

Author(s): Yukako Nakagami, Kiyohito Terada, Hitoshi Ikeda, Toshio Hiyoshi, Yushi Inoue

Journal: Epileptic Disord. 2015 Dec;17(4):485-90.

 

Cri-du-chat syndrome (CdCs) is caused by deletion in the short arm of chromosome 5, occurring in 1:15,000 to 1:50,000 live births. Recent genotype-phenotype correlation studies show the importance of 5p15.2 for facial dysmorphism and intellectual disability, and 5p15.3 for cat-like ...

Last Updated: 29 Dec 2015

Go To URL
Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome.
 

Author(s): Monica Lodi, Erika Rebessi, Eliana Parente, Elisa Micalizzi, Maurizio Viri, Donatella Milani, Antonino Romeo

Journal: Seizure. 2015 Nov;32():49-51.

 

Last Updated: 10 Nov 2015

Go To URL
Cri-du-chat syndrome.
 

Author(s): R Nandhagopal, A M Udayakumar

Journal: Indian J. Med. Res.. 2014 Oct;140(4):570-1.

 

Last Updated: 9 Dec 2014

Go To URL

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 3 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

Go To URL
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

Go To URL
Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management.
 

Author(s): K Cornish, D Bramble

Journal: Dev Med Child Neurol. 2002 Jul;44(7):494-7.

 

Last Updated: 6 Aug 2002

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
 

Status: Recruiting

Condition Summary: 22q11 Deletion Syndrome; DiGeorge Syndrome; Trisomy 21; Trisomy 18; Trisomy 13; Monosomy X; Sex Chromosome Abnormalities; Cri-du-Chat Syndrome; Angelman Syndrome; Prader-Willi Syndrome; 1p36 Deletion Syndrome

 

Last Updated: 19 Apr 2016

Go to URL
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: 19 Apr 2016

Go to URL
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: 19 Apr 2016

Go to URL