Char Syndrome

Common Name(s)

Char Syndrome

Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities. Char syndrome is caused by mutations in the TFAP2B gene and is inherited in an autosomal dominant fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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

Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger.
 

Author(s): Kadir Babaoğlu, Meral Oruç, Ayla Günlemez, Bruce D Gelb

Journal: Anadolu Kardiyol Derg. 2012 Sep;12(6):523-4.

 

Last Updated: 5 Sep 2012

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Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.
 

Author(s): F Zhao, C G Weismann, M Satoda, M E Pierpont, E Sweeney, E M Thompson, B D Gelb

Journal: Am. J. Hum. Genet.. 2001 Oct;69(4):695-703.

 

To elucidate further the role, in normal development and in disease pathogenesis, of TFAP2B, a transcription factor expressed in neuroectoderm, we studied eight patients with Char syndrome and their families. Four novel mutations were identified, three residing in the basic domain, ...

Last Updated: 5 Sep 2001

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Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.
 

Author(s): M Satoda, M E Pierpont, G A Diaz, R A Bornemeier, B D Gelb

Journal: Circulation. 1999 Jun;99(23):3036-42.

 

Patent ductus arteriosus (PDA) is a relatively common form of congenital heart disease. Although polygenic inheritance has been implicated, no specific gene defects causing PDA have been identified to date. Thus, a positional cloning strategy was undertaken to determine the gene responsible ...

Last Updated: 12 Jul 1999

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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 "Char Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.