Velo-cardio-facial syndrome (VCFS) is a relatively common genetic disorder that affects about 1 in 2000 individuals (1). Caused by a microdeletion on chromosome 22q.11 (2,3), the syndrome is associated with multiple congenital anomalies and learning disabilities (4-8). The phenotypic spectrum of VCFS may be the most pleiotropic of any genetic syndrome. Over 180 clinical features have been reported in individuals with VCFS (1,9) with none being obligatory findings. Individuals with VCFS may have as few as four or five anomalies or over 50 depending on the severity of expression of the syndrome. Arguably, the most frequently described features of VCFS are behavioral, cognitive, and developmental problems (9).
|Original language||English (US)|
|Title of host publication||Genetics of Developmental Disabilities|
|Number of pages||35|
|ISBN (Print)||0824758137, 9780824758134|
|State||Published - Jan 1 2005|
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)