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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↑ 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! 7 Not yet finished but already full! 3 Completed 2 Terminated 1

22q11.2 deletion syndrome

Where it sits in the disease tree

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