22q11.2 deletion syndrome
MONDO:001892322q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
Also known as: 22q11DS, Cayler cardiofacial syndrome, Chromosome 22q11.2 Deletion Syndrome, Sedlackova syndrome, Shprintzen syndrome, Takao syndrome, catch 22, conotruncal anomaly face syndrome
13 clinical trials for this condition and its sub-types, 7 tagged with 22q11.2 deletion syndrome itself.
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Sub-types of 22q11.2 deletion syndrome
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DiGeorge syndrome 11 trials
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Velocardiofacial syndrome 4 trials
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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 2 • 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