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Velocardiofacial Syndrome

  • Reference work entry
Encyclopedia of Autism Spectrum Disorders

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Synonyms

VCFS

Short Description or Definition

One of the most common genomic syndromes involving multiple anomalies is velocardiofacial syndrome (VCFS). This genomic disorder was first described clinically by Eva Sedlackova in 1955 (Sedlackova, 1955) and further exemplified by Angelo DiGeorge in 1968 (DiGeorge, 1968) and by R. J. Shprintzen and colleagues in 1978 (Shprintzen et al., 1978); all presented children demonstrated clinical abnormalities such as underactive parathyroid gland, underdeveloped thymus, palate defects, facial anomalies, heart defects, and cognitive limitations. In the 1970s, the syndrome was also noted by Kinouchi, Mori, Ando, and Takao (1976), who labeled the condition as conotruncal anomaly face syndrome. Ultimately, in the 1990s, the specific genetic cause for the condition was identified as a microdeletion (i.e., a deletion of a part of a chromosome) of chromosome 22 at band q11.2 (Scambler, Kelly, Lindsay, et al., 1992). Thus, over the years, this genomic...

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Author information

Authors and Affiliations

  1. Yale Child Study Center, Yale University, 230 South Frontage Road, P. O. Box 207900, 06520, New Haven, CT, USA

    Dr. Laurie Cardona

  2. Yale Child Study Center, Psychology, and Epidemiology and Public Health, Yale University, 230 South Frontage Road, P. O. Box 207900, 06520-7900, New Haven, CT, USA

    Dr. Elena L. Grigorenko (Associate Professor)

Authors
  1. Dr. Laurie Cardona
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  2. Dr. Elena L. Grigorenko
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Correspondence to Laurie Cardona .

Editor information

Editors and Affiliations

  1. Irving B. Harris Professor of Child Psychiatry, Pediatrics and Psychology Yale University School of Medicine, Chief, Child Psychiatry Children's Hospital at Yale-New Haven Child Study Center, New Haven, CT, USA

    Fred R. Volkmar (Director, Child Study Center) (Director, Child Study Center)

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Cardona, L., Grigorenko, E.L. (2013). Velocardiofacial Syndrome. In: Volkmar, F.R. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1698-3_1621

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  • DOI: https://doi.org/10.1007/978-1-4419-1698-3_1621

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4419-1697-6

  • Online ISBN: 978-1-4419-1698-3

  • eBook Packages: Behavioral Science

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