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In order to accelerate translational efforts (moving from basic laboratory research to meaningful health outcomes, such as therapies and treatments) related to Cardio-Facio-Cutaneous syndrome, CFC International is partnering with Patient Crossroads to launch their patient Registry. The Registry is important for characterizing and understanding CFC syndrome better.  Not only will the Registry provide valuable information for families and doctors to make the best care decisions possible, it will be important to help researchers decide what are the most important challenges to address.  The Registry will also help scientists find out if there are any CFC syndrome patients who might be a good match for their research studies. 

Collecting information from CFC syndrome patients is very important, but protecting the privacy of people affected by CFC syndrome is also extremely important.  In order to protect your privacy, Patient Crossroads (the company that designed the registry software) has designed many safeguards.  You and your child’s information will be “de-identified” so no one who looks at the data can identify you or your child.  Your child’s information will be assigned a code.  If a researcher is interested in learning more about you or your child, the researcher will ask the Patient Crossroads/CFC genetic counselor to contact you.  A scientist will not be able to receive any identifying information about you or your child unless you give explicit consent for your child’s identity to be released to that researcher.  

For more information please contact CFC International at: info@cfcsyndrome.org

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About 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.  According to one study, CFC is thought to occur in approximately 1 in 800,000 individuals. 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.