Velo-cardio-facial syndrome

Wendy R. Kates, Kevin Martin Antshel, Wanda Fremont, Robert J. Shprintzen, Nancy Roizen

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

Abstract

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 languageEnglish (US)
Title of host publicationGenetics of Developmental Disabilities
PublisherCRC Press
Pages383-417
Number of pages35
ISBN (Electronic)9780849348020
ISBN (Print)0824758137, 9780824758134
StatePublished - Jan 1 2005

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ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Kates, W. R., Antshel, K. M., Fremont, W., Shprintzen, R. J., & Roizen, N. (2005). Velo-cardio-facial syndrome. In Genetics of Developmental Disabilities (pp. 383-417). CRC Press.