Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing. More detailed information about the symptoms, causes, and treatments of Cardiofaciocutaneous Syndrome is available below.
See full list of 35 symptoms of Cardiofaciocutaneous Syndrome
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See full list of 10 occasional symptoms of Cardiofaciocutaneous Syndrome
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Read more about Misdiagnosis and Cardiofaciocutaneous Syndrome
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Types of Cardiofaciocutaneous Syndrome
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A congenital anomaly/mental retardation syndrome marked by heart defects, characteristic facies, ectodermal abnormalities, and growth failure. CFC and Noonan syndromes are sometimes considered the same entity - (Source - Diseases Database)
Cardiofaciocutaneous Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Cardiofaciocutaneous Syndrome, or a subtype of Cardiofaciocutaneous Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Cardiofaciocutaneous Syndrome as a "rare disease".
Source - Orphanet
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