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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Could a short course of steroids calm a dangerous heart rhythm?
Disease control By invitation onlyThis trial tests whether an 8-week course of the immunosuppressive drug prednisone can reduce episodes of ventricular tachycardia (a potentially fatal fast heart rhythm) and improve heart function in people with non-ischemic cardiomyopathy and confirmed heart inflammation. Partic…
Phase 4 • Sponsor: Roderick Tung • Aim: Disease control
Last updated Jul 29, 2026 00:00 UTC
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New drug aims to help kids with rare genetic short stature grow taller
Disease control OngoingThis study tests a drug called vosoritide in 56 children with short stature caused by certain genetic conditions. The drug targets the growth plate to help children grow faster. Participants are observed for 6 months, then treated with daily injections for 12 months to check safe…
Phase 2 • Sponsor: Andrew Dauber • Aim: Disease control
Last updated Jun 27, 2026 11:03 UTC
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Super MRI could spot hidden heart damage
Diagnosis OngoingThis study tests whether a new, more powerful 7 Tesla MRI can better detect scarring and swelling in the heart muscle of people with cardiomyopathy. Researchers will scan 13 adults aged 20-70 to see if the higher-resolution images improve diagnosis. The goal is to see if this adv…
Sponsor: University of Pennsylvania • Aim: Diagnosis
Last updated Jun 27, 2026 09:02 UTC
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Can a gene registry unlock the secrets of childhood heart failure?
Knowledge-focused OngoingThis study gathers health information from children under 18 who have cardiomyopathy linked to mutations in the MYBPC3 gene. Researchers aim to map the disease's natural course, identify risk factors, and measure how it affects quality of life. By reviewing past and future medica…
Sponsor: Tenaya Therapeutics • Aim: Knowledge-focused
Last updated Sep 04, 2026 00:00 UTC