syndromic anorectal malformation Pierre Robin syndrome associated with a chromosomal anomaly branchial arch or oral-acral syndrome rare syndrome with cardiac malformations syndromic urogenital tract malformation syndrome with hypoparathyroidism partial deletion of the long arm of chromosome 22 immunodeficiency due to absence of thymus genetic otorhinolaryngologic disease 22q11.2 deletion syndrome 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. 22q11DS Cayler cardiofacial syndrome DiGeorge sequence DiGeorge syndrome GARD:0010299 ICD10:D82.1 MONDO:0018923 MedDRA:10012979 MedDRA:10066430 Orphanet:567 Sedlackova syndrome Shprintzen syndrome Takao syndrome VCFS catch 22 conotruncal anomaly face syndrome microdeletion 22q11.2 monosomy 22q11 velocardiofacial syndrome syndromic genetic deafness syndromic renal or urinary tract malformation rare neurologic disease with psychiatric involvement hereditary connective tissue disorder genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome