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

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.
 

Author(s): Matteo Vatta, Zhiyv Niu, James R Lupski, Philip Putnam, Katherine G Spoonamore, Ping Fang, Christine M Eng, Alecia S Willis

Journal: Am. J. Med. Genet. A. 2013 Dec;161A(12):3182-6.

 

Haploinsufficiency of CHD7 (OMIM# 608892) is known to cause CHARGE syndrome (OMIM# 214800). Molecular testing supports a definitive diagnosis in approximately 65-70% of cases. Most CHD7 mutations arise de novo, and no mutations affecting exon-7 have been reported to date. We report ...

Last Updated: 22 Nov 2013

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Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome.
 

Author(s): Stephanie A Balow, Lain X Pierce, Gabriel E Zentner, Patricia A Conrad, Stephani Davis, Hatem E Sabaawy, Brian M McDermott, Peter C Scacheri

Journal: Dev. Biol.. 2013 Oct;382(1):57-69.

 

CHARGE syndrome is a sporadic autosomal-dominant genetic disorder characterized by a complex array of birth defects so named for its cardinal features of ocular coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities. Approximately ...

Last Updated: 24 Sep 2013

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Structural pituitary abnormalities associated with CHARGE syndrome.
 

Author(s): Louise C Gregory, Evelien F Gevers, Joanne Baker, Tessa Kasia, Kling Chong, Dragana J Josifova, Maria Caimari, Frederic Bilan, Mark J McCabe, Mehul T Dattani

Journal: J. Clin. Endocrinol. Metab.. 2013 Apr;98(4):E737-43.

 

CHARGE syndrome is a multisystem disorder that, in addition to Kallmann syndrome/isolated hypogonadotrophic hypogonadism, has been associated with anterior pituitary hypoplasia (APH). However, structural abnormalities such as an ectopic posterior pituitary (EPP) have not yet been ...

Last Updated: 8 Apr 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 "CHARGE Syndrome" returned 5 free, full-text review articles on human participants. First 3 results:

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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[The CHARGE syndrome].
 

Author(s): Claus Klingenberg, Wenche Helene Andersen

Journal: Tidsskr. Nor. Laegeforen.. 2008 Jun;128(12):1401-5.

 

CHARGE syndrome is a rare congenital condition with multiple malformations. The acronym CHARGE summarizes six cardinal features: Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital anomalies and Ear anomalies/deafness. Our aim is to present an update ...

Last Updated: 16 Jun 2008

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.