Cardiofaciocutaneous syndrome

Below you will find more information about Cardiofaciocutaneous syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Cardiofaciocutaneous syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Cardiofaciocutaneous syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Cardiofaciocutaneous syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Cardiofaciocutaneous syndrome is a congenital anomaly characterized by mental retardation and marked with heart defects, ectodermal abnormalities as well as growth failure. This medical condition was first discovered in 1986, and to date, there are less than 300 recorded cases of this congenital disorder all over the world, and known to affect both sexes across all ethnic background.


The diagnosis of CFC syndrome is made through observations made of the known features and symptoms of the syndrome. Magnetic resonance imaging or MRI may be used to produce ultrasound imaging of the brain and heart to provide a more definitive diagnosis.


The CFC syndrome has no existing cure and treatment available. Therapies available today are purely symptomatic for symptoms of the syndrome that affects the individual. Skin care help, special education and speech therapy are among the most common treatments available. For patients suffering from tube feeding and heart defects, surgical intervention is the available option.

Symptoms and Signs

The cardiofaciocutaneous syndrome is characterized by heart defects, sparse and brittle scalp hair, delayed growth, psychomotor retardation, foot abnormalities, heart malformations, and distinctive facial appearance.


CFC is said to be a cause of a biochemical relational of mutated genes, particularly those found in BRAF and KRAS, MEK1 and MEK2 genes.

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