22q11.2 Deletion Syndrome

The term 22q11.2 deletion syndrome (22q11DS) includes several clinical syndromes, most notably DiGeorge syndrome and velocardiofacial syndrome (VCFS), whose phenotypes reflect the breadth of phenotype and severity of this syndrome. Cardinal abnormalities include conotruncal heart defects, thymus hypoplasia or aplasia causing cellular immunodeficiency, parathyroid insufficiency with hypocalcemia, and palate defects or velopharyngeal insufficiency. Patients with 22q11DS can have congenital defects and comorbidities in virtually any body system, many of which interfere with sleep.