Highly variable presentation that may include midline defects such as cleft palate, cardiac anomalies such as ventroseptal defect, learning disabilities or developmental delay, unusual facies, and psychosis in adolescence. Associated with chromosome arm 22q11 deletion. Also known as shprintzen syndrome or digeorge syndrome.
Velocardiofacial syndrome (VCFS) is a nondegenerative autosomal dominant disorder (National Institute on Deaf¬ ness and Other Communication Disorders [NIDCD], 1996) that results in facial abnormalities, cardiovascular difficulties, learning disabilities, and neuropsychiatric problems (Phelps, 1998). VCFS also is known as Shprintzen syndrome, craniofacial syndrome, or conotruncal anomaly unusual face syndrome (NIDCD, 1996), although these syndromes are often classified as separate disorders with similar genetic deletions and overlapping behavioral phenotypes.