Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • VCF syndome
  • VCFS
  • Shprintzen VCF syndrome
  • Shprintzen syndrome
  • Velo-cardio-facial syndrome
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Home > Genetic & Rare Diseases Information Center (GARD) > Velocardiofacial syndrome



Velocardiofacial syndrome
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Velocardiofacial syndrome is a genetic disorder that is present from birth and can be characterized by a variety (over thirty) different signs and symptoms. The most common features are cleft palate (opening in the roof of the mouth), heart defects, certain facial features, minor learning problems and speech and feeding problems. Although the gene or genes that cause velocardiofacial syndrome have not been identified, most of the children who have been diagnosed with this syndrome are missing a small part of chromosome 22.[1]

References
  1. Velocardiofacial Syndrome. National Institute on Deafness and Other Communication Disorders. 2004 Available at: http://www.nidcd.nih.gov/health/voice/velocario.asp. Accessed January 8, 2009.

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More Detailed Information (Found 6 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
    • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Velocardiofacial syndrome. Click on the link to go to OMIM and review these resources.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Velocardiofacial syndrome. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
  • Other Links

 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
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Support Groups (Found 7 resources)
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  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
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Clinical Trials & Research (Found 1 resource)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Velocardiofacial syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

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