CHARGE syndrome
MONDO:0008965CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
Also known as: CHARGE association, CHARGE syndrome, Hall-Hittner syndrome, coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association, coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association, coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome, Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies, coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies
4 clinical trials for this condition and its sub-types.
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New study tackles diagnostic maze for rare developmental disorders
Knowledge-focused Recruiting nowThis study looks at how to reduce the long and frustrating journey to a diagnosis for people with developmental abnormalities. Researchers will review past cases, collect new blood or skin samples, and use advanced genetic testing. The goal is to understand why some people remain…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 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