Velocardiofacial Syndrome

Synonyms

• Shprintzen Syndrome
• Conotruncal Anomaly Face Syndrome
• Craniofacial Syndrome

Disorder Subdivisions

• None

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).

Resources

FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Internet: http://www.faces-cranio.org

National Foundation for Facial Reconstruction
317 East 34th St.
#901
New York, NY 10016
Tel: (212)263-6656
Fax: (212)263-7534
Tel: (800)422-3223
Email: whitney@nffr.org
Internet: http://www.nffr.org

Velo-Cardio-Facial Syndrome Educational Foundation
P.O. Box 874
Milltown, NJ 08850
USA
Tel: 8668237335
Email: info@vcfsef.org
Internet: http://www.vcfsef.org

American Heart Association
National Center
7272 Greenville Avenue
Dallas, TX 75231-4596
Tel: (214)373-6300
Fax: (214)373-0268
Tel: (800)242-8721
Email: inquire@heart.org
Internet: http://www.americanheart.org

NIH/National Oral Health Information Clearinghouse
1 NOHIC Way
Bethesda, MD 20892-3500
USA
Tel: 3014027364
Fax: 3019078830
TDD: 3016567581
Email: nohic@nidcr.nih.gov
Internet: http://www.nohic.nidcr.nih.gov

NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
1 Communication Ave
Bethesda, MD 20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
Tel: (800)241-1044
TDD: (800)241-1105
Email: nidcdinfo@nidcd.nih.gov
Internet: http://www.nidcd.nih.gov

22q and You Center
The Department of Clinical Genetics
The Children's Hospital of Philadelphia
One Children's Center
34th Street and Civic Center Boulevard
Philadelphia, PA 19104
Tel: (215)590-2920
Fax: (215)590-3298
Email: lunny@email.chop.edu
Internet: http://www.cbil.upenn.edu/VCFS/22qandyou/

Chromosome 22 Central
237 Kent Ave
Timmins
Ontario, Intl P4N 3C2
Canada
Tel: 7052683099
Email: a815@c22c.org
Internet: http://www.c22c.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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 2/23/2005
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