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

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 AttiƩ-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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CHARGE syndrome: an overview on dental and maxillofacial features.
 

Author(s): F Inchingolo, A Pacifici, M Gargari, J I Acitores Garcia, M Amantea, M Marrelli, G Dipalma, A M Inchingolo, R Rinaldi, A D Inchingolo, L Pacifici, M Tatullo

Journal: Eur Rev Med Pharmacol Sci. 2014 ;18(15):2089-93.

 

CHARGE is an acronym referring to the aspects of this rare syndromic condition. Patients with CHARGE association are today considered as subjects lacking in pathognomonic dental alterations. The present study is aimed at adding to the body of evidence of the cases reported in literature ...

Last Updated: 29 Jul 2014

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CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.
 

Author(s): Jacqueline M Ogier, Marina R Carpinelli, Benedicta D Arhatari, R C Andrew Symons, Benjamin T Kile, Rachel A Burt

Journal:

 

CHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7). Characteristics of CHARGE are varied and include developmental ear and hearing anomalies. Here we report a novel mouse model of CHD7 dysfunction, termed ...

Last Updated: 20 May 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 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.