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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
To improve the quality of life for individuals with CFC Syndrome and their families through family support, research, and education.
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Hypertrophic Cardiomyopathy Association
Providing support, advocacy, and education to patients, families, the medical community, and the public about hypertrophic cardiomyopathy, while supporting research and fostering the development of treatments.
Lymphangiomatosis & Gorham’s Disease Alliance
The mission of the LGDA is to bring hope to and improve the quality of life of patients diagnosed with generalized lymphatic anomaly (GLA), kaposiform lymphangiomatosis (KLA), Gorham-Stout disease (GSD) and central conducting lymphatic anomaly (CCLA) through support networks, education, research and advocacy.
Moonshots for Unicorns
Curing single-gene disorders
My Faulty Gene
My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
To fund research for treatment and/or a cure for CASK Gene Disorder
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 are a group of genetic syndromes that may be as common as 1:1000. The syndromes RASopathies Network focuses on include: cardio-facio-cutaneous (CFC), Costello (CS), LEOPARD/NSML, Neurofibromatosis type 1 (NF1), and Noonan (NS). Our mission is to advance research to improve the quality of life for RASopathy families by bringing together families, clinicians and scientists.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.