22q11.2 deletion syndrome

Definition

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, catch 22, Cayler cardiofacial syndrome, Chromosome 22q11.2 Deletion Syndrome, conotruncal anomaly face syndrome, microdeletion 22q11.2, monosomy 22q11, Sedlackova syndrome, Shprintzen syndrome, Takao syndrome — per MONDO

Also identified as

• Orphanet 567 per MONDO