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n 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), CFC International is partnering with Invitae to launch their Patient Insights Network (PIN). The registry is important for better characterizing and understanding CFC syndrome.  The registry will provide valuable information for families and doctors to make the best care decisions possible, and will help researchers determine 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 those affected by CFC syndrome is also of paramount importance. In order to protect your privacy, Invitae has designed this registry with the highest safeguard standards possible. All information from you and your child is "de-identified," meaning that anyone looking at the data cannot identify you or your child.  If interested, 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 Invitae registry coordinator 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

CFC syndrome is a rare genetic condition that typically affects the heart (cardio-), facial features (facio-) and skin (cutaneous).  CFC syndrome occurs with equal frequency across all gender and ethnic types.

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 a 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 a wide spectrum of severity exists across those with CFC syndrome, most individuals will have some degree of learning difficulty and developmental delay. Several characteristic facial features evident in CFC syndrome may overlap with other conditions, particularly Noonan syndrome (NS) and Costello syndrome (CS).  Accurate diagnosis is essential for proper medical management.


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I
n 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), CFC International is partnering with Invitae to launch their Patient Insights Network (PIN). The registry is important for better characterizing and understanding CFC syndrome.  The registry will provide valuable information for families and doctors to make the best care decisions possible, and will help researchers determine 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 those affected by CFC syndrome is also of paramount importance. In order to protect your privacy, Invitae has designed this registry with the highest safeguard standards possible. All information from you and your child is "de-identified," meaning that anyone looking at the data cannot identify you or your child.  If interested, 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 Invitae registry coordinator 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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