Velocardiofacial Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Velocardiofacial Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

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

Transposition of the Great Arteries
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: (866)823-7335
Email: info@vcfsef.org
Internet: http://www.vcfsef.org

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

NIH/National Oral Health Information Clearinghouse
1 NOHIC Way
Bethesda, MD 20892-3500
USA
Tel: (301)402-7364
Fax: (301)907-8830
TDD: (301)656-7581
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: 705-268-3099
Email: steph.stpierre@c22c.org
Internet: http://www.c22c.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

related physicians

related services

Bon Secours International| Sisters of Bon Secours USA| Bon Secours Health System

This information does not replace the advice of a doctor. Healthwise disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. Privacy Policy. How this information was developed to help you make better health decisions.