DiGeorge syndrome

synonyms: congenital thymic aplasia, conotruncal anomaly face syndrome, DiGeorge anomaly, Shprintzen syndrome, Strong syndrome, thymic hypoplasia, velocardiofacial syndrome

initialism: DGS

https://doi.org/10.1351/goldbook.10603

Condition caused by the deletion of a small piece of chromosome 22 near the middle of the chromosome at a location designated 22q11.2.

Note: Characteristic signs and symptoms may include birth defects such as congenital heart disease; defects in the palate, most commonly related to neuromuscular problems with closure (velopharyngeal insufficiency); learning disabilities; mild deviations in facial features; and recurrent infections.

Source:
PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 743 (https://doi.org/10.1515/pac-2015-1202)