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

CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery.
 

Author(s): A C Vesseur, B M Verbist, H E Westerlaan, F J J Kloostra, R J C Admiraal, C M A van Ravenswaaij-Arts, R H Free, E A M Mylanus

Journal: Eur Arch Otorhinolaryngol. 2016 Dec;273(12):4225-4240.

 

To provide an overview of anomalies of the temporal bone in CHARGE syndrome relevant to cochlear implantation (CI), anatomical structures of the temporal bone and the respective genotypes were analysed. In this retrospective study, 42 CTs of the temporal bone of 42 patients with CHARGE ...

Last Updated: 21 Jun 2016

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Duplication 2p25 in a child with clinical features of CHARGE syndrome.
 

Author(s): Ethan D Sperry, Jane L Schuette, Conny M A van Ravenswaaij-Arts, Glenn E Green, Donna M Martin

Journal: Am. J. Med. Genet. A. 2016 May;170A(5):1148-54.

 

CHARGE syndrome is a dominant disorder characterized by ocular colobomata, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia, and ear abnormalities including deafness and vestibular disorders. The majority of individuals with CHARGE have pathogenic ...

Last Updated: 14 Apr 2016

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Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.
 

Author(s): Caitlin L Hale, Adrienne N Niederriter, Glenn E Green, Donna M Martin

Journal: Am. J. Med. Genet. A. 2016 Feb;170A(2):344-54.

 

CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary anomalies, and Ear malformations, including deafness and vestibular disorders) is a genetic condition characterized by a specific and recognizable ...

Last Updated: 25 Jan 2016

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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 7 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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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: 16 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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.