NORD's
Washington Office
 Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.
|
|
|
The National Organization for Rare Disorders (NORD) web site, its databases,
and the contents thereof are copyrighted by NORD. No part of the NORD web
site, databases, or the contents may be copied in any way, including but not
limited to the following: electronically downloading, storing in a retrieval
system, or redistributing for any commercial purposes without the express
written permission of NORD. Permission is hereby granted to print one hard
copy of the information on an individual disease for your personal use,
provided that such content is in no way modified, and the credit for the
source (NORD) and NORD’s copyright notice are included on the printed copy.
Any other electronic reproduction or other printed versions is strictly
prohibited.
The information in NORD's Rare Disease Database is for educational purposes only. It
should never be used for diagnostic or treatment purposes. If you have questions regarding
a medical condition, always seek the advice of your physician or other qualified health
professional. NORD's reports provide a brief overview of rare diseases. For more specific
information, we encourage you to contact your personal physician or the agencies listed as
"Resources" on this report.
Copyright 1991, 1993, 1996, 1997, 1998, 2004
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
The Children's Hospital of Philadelphia
One Children's Center
34th Street and Civic Center Boulevard
Philadelphia PA 19104
Phone #: 215-590-2920
800 #: --
e-mail: lunny@email.chop.edu
Home page: http://www.cbil.upenn.edu/VCFS/22qandyou/
- American Heart Association
7272 Greenville Avenue
Dallas TX 75231-4596
Phone #: 214-373-6300
800 #: 800-242-8721
e-mail: Review.personal.info@heart.org
Home page: http://www.americanheart.org
- Chromosome 22 Central
237 Kent Ave
Timmins
Ontario Intl P4N 3C2
Phone #: 705--26-8-3099
800 #: --
e-mail: steph.stpierre@c22c.org
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: faces@faces-cranio.org
Home page: http://www.faces-cranio.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- 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: mums@netnet.net
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: nidcdinfo@nidcd.nih.gov
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: nohic@nidcr.nih.gov
Home page: http://www.nohic.nidcr.nih.gov
- Transposition of the Great Arteries
317 East 34th St.
#901
New York NY 10016
Phone #: 212-263-6656
800 #: 800-422-3223
e-mail: whitney@nffr.org
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: info@vcfsef.org
Home page: http://www.vcfsef.org
|
|
