Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, cu...
Comprehensive, easy-to-understand information about this condition
How we create this content →Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
The limited documentation surrounding cardiofaciocutaneous syndrome is primarily due to its extreme rarity, with a prevalence of less than 1 in 1,000,000. This rarity restricts the availability of systematic clinical studies and comprehensive phenotypic characterization. Additionally, the genetic basis was only recently identified, and ongoing research is needed to better understand the full spectrum of clinical features associated with this condition.
To navigate your care effectively, consider seeking out a geneticist or a specialist in RASopathies who can provide insights into the genetic aspects of cardiofaciocutaneous syndrome. Engaging with the Cardio-Facio-Cutaneous (CFC) International organization can also provide valuable resources and support. They can connect you with other families affected by CFC syndrome and offer information on ongoing research and community support. Additionally, exploring genetic counseling may be beneficial, especially given the known genetic factors involved. You can find more information at https://cfcsyndrome.org.
Currently, there are 7 active clinical trials investigating various aspects of cardiofaciocutaneous syndrome. These trials may provide opportunities for patients to participate in cutting-edge research aimed at better understanding the condition and exploring potential therapeutic options. For more details, you can search for ongoing studies at ClinicalTrials.gov using the following link: https://clinicaltrials.gov/search?cond=cardiofaciocutaneous%20syndrome.
Actionable guidance for navigating care for cardiofaciocutaneous syndrome
To navigate your care effectively, consider seeking out a geneticist or a specialist in RASopathies who can provide insights into the genetic aspects of cardiofaciocutaneous syndrome. Engaging with the Cardio-Facio-Cutaneous (CFC) International organization can also provide valuable resources and support. They can connect you with other families affected by CFC syndrome and offer information on ongoing research and community support. Additionally, exploring genetic counseling may be beneficial, especially given the known genetic factors involved. You can find more information at https://cfcsyndrome.org.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the cardiofaciocutaneous syndrome community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.