22q11.2 deletion syndrome

MONDO:0018923

22q11.2 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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Where it sits in the disease tree

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Part of

↑ Immune system disorder (12993) ↑ Heart disorder (6782) ↑ Congenital nervous system disorder (287) ↑ Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (91) ↑ Chromosome 22q deletion (13)

Sub-types of 22q11.2 deletion syndrome

DiGeorge syndrome 11 trials
Velocardiofacial syndrome 4 trials
Chromosome 22q11.2 deletion syndrome, distal 0 trials
Congenital unilateral hypoplasia of depressor anguli oris 0 trials

Including sub-types (13) Tagged with 22q11.2 deletion syndrome (7)

Trials to join now! 5 Completed 1 Terminated 1

New gel shows promise for rare genetic disorder in kids

Symptom relief Completed

This 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

22q11.2 deletion syndrome

Where it sits in the disease tree

New gel shows promise for rare genetic disorder in kids