Cardiofaciocutaneous Syndrome

Common Name(s)

Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), face (facio-), and the skin and hair (cutaneous). People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart in infancy. This condition is caused by mutations in the BRAF, MAP2K1, or MAP2K2 gene. CFC syndrome is an autosomal dominant condition; but all reported cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Cardio-Facio-Cutaneous International

We are forging a path to improve lives through family support, research and education.

Last Updated: 2 Nov 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Cardio-Facio-Cutaneous International

We are forging a path to improve lives through family support, research and education.

http://www.cfcsyndrome.org

Last Updated: 2 Nov 2012

View Details

 

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 "Cardiofaciocutaneous Syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.
 

Author(s): D H Siegel, J McKenzie, I J Frieden, K A Rauen

Journal: Br. J. Dermatol.. 2011 Mar;164(3):521-9.

 

The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Cardiofaciocutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital ...

Last Updated: 7 Mar 2011

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Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
 

Author(s): Elizabeth I Pierpont, Mary Ella Pierpont, Nancy J Mendelsohn, Amy E Roberts, Erica Tworog-Dube, Katherine A Rauen, Mark S Seidenberg

Journal: Am. J. Med. Genet. A. 2010 Mar;152A(3):591-600.

 

Cardiofaciocutaneous syndrome (CFC) and Noonan syndrome (NS) are two phenotypically overlapping genetic disorders whose underlying molecular etiologies affect a common signaling pathway. Mutations in the BRAF, MEK1, and MEK2 genes cause most cases of CFC and mutations in PTPN11, SOS1, ...

Last Updated: 1 Mar 2010

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Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome.
 

Author(s): Selman Vefa Yildirim, Eren Kale-Cekinmez, Deren Ozcan, Murat Derbent

Journal: Turk. J. Pediatr.. ;50(3):275-7.

 

Cardiofaciocutaneous (CFC) syndrome is a rare disorder characterized by psychomotor and growth retardation, a typical facial dysmorphism, congenital heart defects, and ectodermal abnormalities. Pulmonic stenosis, atrial and ventricular septal defects, patent ductus arteriosus, and ...

Last Updated: 8 Sep 2008

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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 "Cardiofaciocutaneous Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

The cardiofaciocutaneous syndrome.
 

Author(s): A Roberts, J Allanson, S K Jadico, M I Kavamura, J Noonan, J M Opitz, T Young, G Neri

Journal: J. Med. Genet.. 2006 Nov;43(11):833-42.

 

The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, ...

Last Updated: 6 Nov 2006

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.