DiGeorge syndrome
MONDO:0008564A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.
Also known as: 22q deletion syndrome(s), 22q11.2 deletion syndrome, DGS, DGS1, Di-George syndrome, DiGeorge anomaly, DiGeorge syndrome, DiGeorge syndrome type 1
11 clinical trials for this condition and its sub-types.
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New gel shows promise for rare genetic disorder in kids
Symptom relief CompletedThis study tested a gel called ZYN002, applied to the skin, in 20 children and teens (ages 4-17) with 22q11.2 deletion syndrome. The main goal was to see if the gel is safe and tolerable over 38 weeks. Researchers also looked at whether it could improve behavior and other symptom…
Phase: PHASE2 • Sponsor: Harmony Biosciences Management, Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 11:00 UTC
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Eye-Tracking reveals clues to autism in Children's gaze
Knowledge-focused CompletedThis study measured how children with and without autism look at faces, body movements, and objects using eye-tracking technology. Researchers wanted to see if visual patterns could help understand social differences in autism. 150 children took part, including those with autism …
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC