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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New study tests online therapy to ease stress for parents of kids with RASopathies
Symptom relief Recruiting nowThis study tests whether Acceptance and Commitment Therapy (ACT), delivered through a smartphone app, can help caregivers of children with RASopathies (like Neurofibromatosis type 1 and Noonan syndrome) cope with parenting stress. The trial is fully remote and involves 70 adult c…
Sponsor: National Cancer Institute (NCI) • Aim: Symptom relief
Last updated Aug 26, 2026 00:00 UTC
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Scientists launch major study to unravel rare genetic conditions
Knowledge-focused Recruiting nowThis study aims to learn more about RASopathies, a group of genetic conditions that can cause developmental issues, birth defects, and increased cancer risk. Researchers will follow up to 500 people of any age who have or may have a RASopathy, along with their family members, for…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Aug 22, 2026 00:00 UTC
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Massive study aims to unlock secrets of rare genetic disorders
Knowledge-focused Recruiting nowThis study is collecting blood, tissue, and medical information from up to 1,000 people with RASopathies—a group of genetic conditions that affect development and raise cancer risk. Researchers will store these samples and data in a database for future studies. The goal is to lea…
Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC