22q11.2 Deletion Syndrome, Velocardiofacial Syndrome (VCFS), DiGeorge sequence, Shprintzen syndrome, Conotruncal Anomaly Face Syndrome (CTAF)
Type of disease: Rare conditions
22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called DiGeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome; cases of Opitz G/BBB syndrome; and Cayler cardiofacial syndrome. The features and severity can vary greatly among affected people. Signs and symptoms may include cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, immune system disorders, kidney abnormalities, hypoparathyroidism, thrombocytopenia, scoliosis, hearing loss, developmental delay, and learning disabilities. People with this condition are also more likely to develop certain autoimmune disorders and personality disorders. In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent. It is inherited in an autosomal dominant manner.Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.