Living with Cardio-facio-cutaneous syndrome
A condition that affects the heart, facial features, skin and hair, and development.
Understanding Cardio-facio-cutaneous syndrome
People with this condition also have delayed development and intellectual disability, usually moderate to severe. Most have heart defects, such as a narrowed valve between the heart and lungs, a hole between the upper heart chambers, or thickened heart muscle. It begins during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart valve and other heart differences
- Hole between the upper heart chambers
- Brittle hair and sparse eyebrows
- Cross-eyed (strabismus) and nearsightedness
- Coarse facial features
- Differences in speech
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
CFC International, Hypertrophic Cardiomyopathy Association and RASopathies Network may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: CFC International, Hypertrophic Cardiomyopathy Association, RASopathies Network
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CFC International and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is inherited in an autosomal dominant way, so one changed copy of a gene can cause it.
Also known as: cardio-facial-cutaneous syndrome; cardiofaciocutaneous (cfc) syndrome; cardiofaciocutaneous syndrome; cfc; cfc syndrome
Patient organizations
- CFC InternationalCardio-facio-cutaneous syndrome · United States
- Hypertrophic Cardiomyopathy AssociationCardio-facio-cutaneous syndrome · United States
- RASopathies NetworkCardio-facio-cutaneous syndrome · United States
- Children's Craniofacial AssociationCardio-facio-cutaneous syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cardio-facio-cutaneous syndrome.
Explore research for Cardio-facio-cutaneous syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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