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 Support Organizations

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

Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.
 

Author(s): Monica T Y Wong, Annechien J A Lambeck, Mirjam van der Burg, Sacha la Bastide-van Gemert, Lianne A Hogendorf, Conny M A van Ravenswaaij-Arts, Elisabeth H Schölvinck

Journal:

 

CHARGE syndrome is a variable, multiple congenital malformation syndrome. Patients with CHARGE syndrome have frequent infections that are presumed to be due to anatomical anomalies of the craniofacial region and upper airway, and cranial nerve problems resulting in swallowing difficulties ...

Last Updated: 7 Nov 2015

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CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
 

Author(s): Elisa Pisaneschi, Pietro Sirleto, Francesca Romana Lepri, Silvia Genovese, Maria Lisa Dentici, Stefano Petrocchi, Adriano Angioni, Maria Cristina Digilio, Bruno Dallapiccola

Journal:

 

CHARGE syndrome is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, Genital anomalies and Ear anomalies. Over 90 % of typical CHARGE patients are mutated in the CHD7 gene, 65 %-70 % of the cases for all typical ...

Last Updated: 4 Sep 2015

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Inappropriate p53 activation during development induces features of CHARGE syndrome.
 

Author(s): Jeanine L Van Nostrand, Colleen A Brady, Heiyoun Jung, Daniel R Fuentes, Margaret M Kozak, Thomas M Johnson, Chieh-Yu Lin, Chien-Jung Lin, Donald L Swiderski, Hannes Vogel, Jonathan A Bernstein, Tania Attié-Bitach, Ching-Pin Chang, Joanna Wysocka, Donna M Martin, Laura D Attardi

Journal: Nature. 2014 Oct;514(7521):228-32.

 

CHARGE syndrome is a multiple anomaly disorder in which patients present with a variety of phenotypes, including ocular coloboma, heart defects, choanal atresia, retarded growth and development, genitourinary hypoplasia and ear abnormalities. Despite 70-90% of CHARGE syndrome cases ...

Last Updated: 9 Oct 2014

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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 6 free, full-text review articles on human participants. First 3 results:

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):600-11.

 

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: 9 Oct 2015

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Chromodomain proteins in development: lessons from CHARGE syndrome.
 

Author(s): W S Layman, E A Hurd, D M Martin

Journal: Clin. Genet.. 2010 Jul;78(1):11-20.

 

In humans, heterozygous mutations in the adenosine triphosphate-dependent chromatin remodeling gene CHD7 cause CHARGE syndrome, a common cause of deaf-blindness, balance disorders, congenital heart malformations, and olfactory dysfunction with an estimated incidence of approximately ...

Last Updated: 5 Jul 2010

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Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
 

Author(s): Gabriel E Zentner, Wanda S Layman, Donna M Martin, Peter C Scacheri

Journal: Am. J. Med. Genet. A. 2010 Mar;152A(3):674-86.

 

CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities (including deafness)] is a genetic disorder characterized by a specific and a recognizable pattern of ...

Last Updated: 1 Mar 2010

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.