What is CFC Syndrome?

CFC syndrome is a rare genetic condition that typically affects the heart (cardio), facial features (facio) and skin (cutaneous). It is seen with equal frequency in males and females and across all ethnic groups. Children with CFC syndrome may have certain features that suggest the diagnosis, such as relatively large head size, down-slanting eyes, sparse eyebrows, curly hair, areas of thickened or scaly skin, and short stature.  Most will also have a heart defect. While there is a wide spectrum of severity in CFC syndrome, most individuals will have some degree of learning difficulty and developmental delay.  There are several characteristic facial features that are evident in CFC syndrome that may overlap with other conditions, particularly Noonan Syndrome (NS) and Costello Syndrome (CS). Therefore, accurate diagnosis is essential for proper medical management.

How Common is it?

The exact incidence of CFC syndrome is unknown, but one report suggests that it can occur in approximately 1 in 810,000 individuals. However, we believe the actual incidence is probably much higher.