Velo-cardio-facial syndrome

Wendy R. Kates, Wanda Fremont

Research output: Chapter in Book/Report/Conference proceedingChapter


Summary of findings Introduction Velocardiofacial syndrome (VCFS) is a relatively common disorder that affects one in 4000 individuals (Ryan et al., 1997). Caused by a microdeletion on chromosome 22q11.2, VCFS, also known as 22q11.2 Deletion Syndrome, is associated with a highly variable phenotype that can include palatal anomalies, conotruncal heart defects, hypocalcemia, velopharyngeal insufficiency, neurocognitive deficits, and behavioral disorders. Up to 30% of adolescents and adults with VCFS eventually develop a psychosis (Bassett et al., 1998; Murphy, Jones, & Owen, 1999), leading several investigators to characterize VCFS as a genetic-based subtype of schizophrenia (Bassett and Chow, 1999). Since the publication in 1992 of the initial report of an association between VCFS and psychosis (Shprintzen et al., 1992), the incidence, clinical phenotype, and molecular basis of psychosis in individuals who harbor this microdeletion has been the subject of increasingly intensive study. Epidemiology Although the behavioral phenotype of children with VCFS is well described (see below), relatively few studies have used structured psychiatric interviews from which specific psychiatric diagnoses can be derived. The few extant studies indicate that up to 45% of children with VCFS are diagnosed with attention deficit disorder, 28% with generalized anxiety disorder, 61% with phobias, between 11% and 33% with obsessive compulsive disorder, and between 18% and 30% with mood disorders (including ultrarapid cycling bipolar disorder with hallucinations) (Arnold et al., 2001; Feinstein et al., 2002; Goldberg et al., 1993; Gothelf et al., 2004; Papolos et al., 1996).

Original languageEnglish (US)
Title of host publicationThe Spectrum of Psychotic Disorders
Subtitle of host publicationNeurobiology, Etiology and Pathogenesis
PublisherCambridge University Press
Number of pages15
ISBN (Electronic)9780511543784
ISBN (Print)0521850568, 9780521850568
StatePublished - Jan 1 2007
Externally publishedYes

ASJC Scopus subject areas

  • General Medicine


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