/22q11.2 deletion syndrome

22q11.2 deletion syndrome

Rare Disease

MONDO:0018923

Also Known As

22q11DSCayler cardiofacial syndromeSedlackova syndromeShprintzen syndromeTakao syndromecatch 22conotruncal anomaly face syndromemicrodeletion 22q11.2monosomy 22q11DiGeorge sequenceDiGeorge syndromeVCFSvelocardiofacial 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.