CHARGE Syndrome

Common Name(s)

CHARGE Syndrome, CHARGE association

CHARGE syndrome is a condition that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), restricted growth and development, genital abnormality, and ear abnormality. Signs and symptoms vary among affected individuals; however, infants often have multiple life-threatening medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. In more than half of all cases, mutations in the CHD7 gene cause CHARGE syndrome. It is inherited in an autosomal dominant pattern; although most cases result from new mutations in the gene and occur in people with no history of the condition in their family.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "CHARGE Syndrome" for support, advocacy or research.

CHARGE Syndrome Foundation, Inc.

The mission of the CHARGE Syndrome Foundation, Inc. is to provide support to individuals with CHARGE syndrome and their families; to gather, develop, maintain and distribute information about CHARGE syndrome; and to promote awareness and research regarding its identification, cause and management.

Last Updated: 7 Nov 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "CHARGE Syndrome" for support, advocacy or research.

CHARGE Syndrome Foundation, Inc.

The mission of the CHARGE Syndrome Foundation, Inc. is to provide support to individuals with CHARGE syndrome and their families; to gather, develop, maintain and distribute information about CHARGE syndrome; and to promote awareness and research regarding its identification, cause and management.

http://www.chargesyndrome.org

Last Updated: 7 Nov 2012

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General Resources

CHARGE Syndrome Foundation Resources

Resources section of the CHARGE Syndrome Foundation Website, containing all of the materials published by the Foundation.

Updated 7 Nov 2012

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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 "CHARGE Syndrome" returned 59 free, full-text research articles on human participants. First 3 results:

Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis.
 

Author(s): Jie Wen, Li Pan, Xuan Xu, Jiang Wang, Chen Hu

Journal: Medicine (Baltimore). 2018 Jul;97(27):e11284.

 

This study aimed to investigate the genetic mutation characteristics of Kallmann syndrome (KS) with CHARGE syndrome through the clinical features and genetic analysis of a pediatric patient with KS in one pedigree.

Last Updated: 31 Dec 1969

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Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.
 

Author(s): Catherine Bélanger, Félix-Antoine Bérubé-Simard, Elizabeth Leduc, Guillaume Bernas, Philippe M Campeau, Seema R Lalani, Donna M Martin, Stephanie Bielas, Amanda Moccia, Anshika Srivastava, David W Silversides, Nicolas Pilon

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2018 01;115(4):E620-E629.

 

CHARGE syndrome-which stands for coloboma of the eye, heart defects, atresia of choanae, retardation of growth/development, genital abnormalities, and ear anomalies-is a severe developmental disorder with wide phenotypic variability, caused mainly by mutations in (chromodomain helicase ...

Last Updated: 31 Dec 1969

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The utility of personal activity trackers (Fitbit Charge 2) on exercise capacity in patients post acute coronary syndrome [UP-STEP ACS Trial]: a randomised controlled trial protocol.
 

Author(s): Jason Nogic, Paul Min Thein, James Cameron, Sam Mirzaee, Abdul Ihdayhid, Arthur Nasis

Journal:

 

The benefits of physical activity and cardiovascular rehabilitation on the reduction of cardiovascular risk are well documented. Despite this, significant barriers and challenges remain in optimizing patient risk factors post acute coronary syndromes (ACS) and ensuring patient compliance. ...

Last Updated: 31 Dec 1969

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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 "CHARGE Syndrome" returned 8 free, full-text review articles on human participants. First 3 results:

Guidelines in CHARGE syndrome and the missing link: Cranial imaging.
 

Author(s): Christa M de Geus, Rolien H Free, Berit M Verbist, Deborah A Sival, Kim D Blake, Linda C Meiners, Conny M A van Ravenswaaij-Arts

Journal: Am J Med Genet C Semin Med Genet. 2017 12;175(4):450-464.

 

"CHARGE syndrome" is a complex syndrome with high and extremely variable comorbidity. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, ...

Last Updated: 31 Dec 1969

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Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.
 

Author(s): M Albert Basson, Conny van Ravenswaaij-Arts

Journal: Trends Genet.. 2015 Oct;31(10):600-611.

 

CHARGE syndrome is a rare genetic syndrome characterised by a unique combination of multiple organ anomalies. Dominant loss-of-function mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7), which is an ATP-dependent chromatin remodeller, have been identified ...

Last Updated: 31 Dec 1969

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CHARGE syndrome: a review of the immunological aspects.
 

Author(s): Monica T Y Wong, Elisabeth H Schölvinck, Annechien J A Lambeck, Conny M A van Ravenswaaij-Arts

Journal: Eur. J. Hum. Genet.. 2015 Nov;23(11):1451-9.

 

CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11.2 deletion syndrome. Immunological abnormalities ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.