Cardiofaciocutaneous syndrome
MONDO:0015280Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.
Also known as: CFC, CFC syndrome, cardiofaciocutaneous (CFC) syndrome, cardiofaciocutaneous syndrome, cardio-facio-cutaneous syndrome, congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure
16 clinical trials for this condition and its sub-types, 7 tagged with Cardiofaciocutaneous syndrome itself.
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Sub-types of Cardiofaciocutaneous syndrome
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Cardiofaciocutaneous syndrome 1 1 trial
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Cardiofaciocutaneous syndrome 2 0 trials
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Cardiofaciocutaneous syndrome 3 0 trials
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Cardiofaciocutaneous syndrome 4 0 trials
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Cancer drug tested against deadly infant heart disease
Disease control Not yet recruitingResearchers are testing whether trametinib, an FDA-approved cancer drug, can help infants with RASopathies who have a severe, life-threatening heart condition called hypertrophic cardiomyopathy. The trial enrolls about 25 babies with a confirmed genetic diagnosis. Participants re…
Phase 3 • Sponsor: Carelon Research • Aim: Disease control
Last updated Sep 16, 2026 00:00 UTC
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Could you help scientists unlock genetic cancer secrets?
Knowledge-focused Not yet recruitingThis study screens up to 1,000 people with personal or family histories of certain cancers to see if they qualify for ongoing genetics research at the National Cancer Institute. Participants fill out a 15-20 minute online survey about their health and family history. No treatment…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Sep 20, 2026 00:00 UTC