Diseases & Conditions


Velocardiofacial Syndrome

Synonyms of Velocardiofacial Syndrome
  • Conotruncal Anomaly Face Syndrome
  • Craniofacial Syndrome
  • Shprintzen Syndrome

Disorder Subdivisions

    General Discussion
    Velocardiofacial syndrome, (VCFS), a rare genetic disorder, is characterized by abnormalities of the head and facial (craniofacial) area, heart defects that are present at birth (congenital heart defects), diminished muscle tone (hyptonia), mild small stature, slight delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation), and learning disabilities. Some of those affected also develop psychiatric problems.

    The syndrome is associated with many different features, and not all will be present in every case. Cleft palate (an opening in the roof of the mouth) and characteristic facial features are among the most common features found with this syndrome.

    The heart defect most often associated with velocardiofacial syndrome is an abnormal opening in the fibrous partition (septum) that separates the heart's two lower chambers (ventricular septal defect). Additional symptoms and findings often associated with the disorder may include eye (ocular) defects such as clouding of the lenses of the eyes (cataracts) and/or abnormalities of blood vessels in the nerve-rich membranes lining the eyes (tortuous retinal vessels). Psychiatric problems may vary as well, from moderate behavioral change to severe bipolar mood swings or schizophrenia. The range and severity of symptoms vary greatly from case to case.

    Velocardiofacial syndrome is inherited as an autosomal dominant genetic trait and is sometimes known as chromosome 22q11 deletion spectrum because it is associated with multiple identifying features known to occur as a result of a deletion of genetic material on chromosome 22. This syndrome is also associated with other names (see synonyms).

    Organizations related to Velocardiofacial Syndrome
    • 22q and You Center
      The Department of Clinical Genetics
      Philadelphia PA 19104
      Phone #: 215-590-2920
      800 #: --
      e-mail: [email protected]
      Home page: http://www.cbil.upenn.edu/VCFS/22qandyou/
    • American Heart Association
      National Center
      Dallas TX 75231-4596
      Phone #: 214-373-6300
      800 #: 800-242-8721
      e-mail: [email protected]
      Home page: http://www.americanheart.org
    • Chromosome 22 Central
      237 Kent Ave
      Ontario Intl P4N 3C2
      Phone #: 705-268-3099
      800 #: --
      e-mail: [email protected]
      Home page: http://www.c22c.org
    • FACES: The National Craniofacial Association
      P.O. Box 11082
      Chattanooga TN 37401
      Phone #: 423-266-1632
      800 #: 800-332-2373
      e-mail: [email protected]
      Home page: http://www.faces-cranio.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: [email protected]
      Home page: http://www.netnet.net/mums/
    • NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
      1 Communication Ave
      Bethesda MD 20892-3456
      Phone #: 301-402-0900
      800 #: 800-241-1044
      e-mail: [email protected]
      Home page: http://www.nidcd.nih.gov
    • NIH/National Oral Health Information Clearinghouse
      1 NOHIC Way
      Bethesda MD 20892-3500
      Phone #: 301-402-7364
      800 #: --
      e-mail: [email protected]
      Home page: http://www.nohic.nidcr.nih.gov
    • National Foundation for Facial Reconstruction
      317 East 34th St.
      New York NY 10016
      Phone #: 212-263-6656
      800 #: 800-422-3223
      e-mail: [email protected]
      Home page: http://www.nffr.org
    • Velo-Cardio-Facial Syndrome Educational Foundation
      P.O. Box 874
      Milltown NJ 08850
      Phone #: 866-823-7335
      800 #: --
      e-mail: [email protected]
      Home page: http://www.vcfsef.org

    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html