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Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
MONDO:0007588Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.
Also known as: Char-Douglas-Dungan syndrome, extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly
12 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
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AI reads your skin: new tool aims to help doctors spot rashes and moles
Diagnosis Recruiting nowThis study is testing a software tool called Belle.ai that uses artificial intelligence to help doctors diagnose common skin diseases. About 400 patients at dermatology clinics will have three photos taken of their skin condition. The AI will analyze the photos and suggest possib…
Sponsor: Wake Forest University Health Sciences • Aim: Diagnosis
Last updated Jun 27, 2026 07:55 UTC
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New program aims to reduce shame from chronic illness
Symptom relief Recruiting nowThis study tests a group counseling program called Healing HEARTS to help people with conditions like obesity, skin disease, cancer, HIV, diabetes, or chronic pain deal with internalized stigma. Participants will either join the counseling program or a peer support group. The goa…
Phase: NA • Sponsor: University of Florida • Aim: Symptom relief
Last updated Jun 27, 2026 09:02 UTC
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Scientists seek skin samples to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects biological samples—like blood, skin biopsies, and swabs—from people with or at risk for skin diseases, as well as healthy volunteers. Researchers will use these samples to study the causes of skin conditions and explore potential treatments. Up to 700 particip…
Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
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Scientists map DNA 'Signatures' in rare fetal diseases
Knowledge-focused Recruiting nowThis study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Cancer Patients' skin woes under the microscope
Knowledge-focused Recruiting nowThis study looks at how skin conditions related to cancer or cancer treatments affect the well-being of cancer patients and survivors. About 1,025 participants will fill out questionnaires about their skin condition. The goal is to better understand these effects and improve trea…
Sponsor: Memorial Sloan Kettering Cancer Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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Gene tests for sick newborns: a lifesaver in the NICU?
Knowledge-focused Recruiting nowThis study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…
Sponsor: Children's Hospital of Fudan University • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:36 UTC