Synonyms: CFC syndrome
A rare multiple congenital anomalies syndrome characterized by craniofacial dysmorphology congenital heart disease dermatological abnormalities (most commonly hyperkeratotic skin and sparse curly hair) neurological manifestations (hypotonia seizures) failure to thrive and intellectual disability.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2026
Newly diagnosed with
Cardiofaciocutaneous syndrome?
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Advocacy Organizations
Cardio Facio Cutaneous Syndrome International
To improve the quality of life for individuals with CFC Syndrome and their families through family support, research, and education.
Collaborative Research Advocacy for Vascular Anomalies Network (CaRAVAN)
As the research-based umbrella organization for all vascular anomalies, we are on a mission to develop a unified network of patients and their families, advocates, researchers, and clinicians who influence research from initial concept and design to patient care delivery
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
HeartCharged
Ending preventable deaths from undiagnosed heart conditions and sudden cardiac arrest, especially in young people, and providing patient-to-patient support.
Hypertrophic Cardiomyopathy Association
Providing support, advocacy, and education to patients, families, the medical community, and the public about hypertrophic cardiomyopathy and all thick heart muscle disorders, while supporting research and fostering the development of treatments.
Lymphangiomatosis & Gorham’s Disease Alliance
We connect patients and families to peers and networks of care, partner to advance new research, and educate the medical community to help all people navigating complex lymphatic anomalies have hope for a healthier tomorrow.
National Foundation for Ectodermal Dysplasias
Together, we enrich the lives of people affected by ectodermal dysplasias by fostering community, providing education and support, and driving advocacy and groundbreaking research—creating a brighter future for all.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Project FAVA
Project FAVA is a 501(c)(3) non-profit patient advocacy group that promotes awareness of fibro-adipose vascular anomalies, educates patients, their families, and the global community, and provides helpful resources to those with FAVA. Project FAVA also advances research to move the needle towards more effective and less invasive treatment options for FAVA patients.
RASopathies Network
Our mission is to advance research to improve the quality of life for RASopathy families by bringing together clinicians, scientists, and families.
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.