1. VCFS Educational Foundation, Inc Main Page Welcome to the Official Web Site of the velocardio-facial syndrome (VCFS)Educational Foundation, Inc. The Foundation is an international http://www.vcfsef.org/

Velo-Cardio-Facial Syndrome Educational Foundation, Incorporated Site Updated: May 7, 2004 Quick Finder Choose from List Home About VCFS Contact Us FAQs Mission Membership Newsletters Officers Spanish Information Support Groups Your comments are welcome. This site maintained by: Kelvin P. Ringold Home About VCFS Contact Us ... 2004 Annual Conference Information July 23-25, 2004, including the conference details and Call for Abstracts. (pdf format) NOW AVAILABLE ONLINE: View the FULL CONFERENCE AGENDA OR download the PDF BROCHURE (Adobe Acrobat Reader required). NEW BOOK ON VCFS available. "Footprints of Hope: VCFS (Velo-Cardio-Facial Syndrome)", written by Mr. Raymond Tanner, of Australia. See more DETAILS HERE IMPORTANT! SIGN UP for our email newsletter . Just fill out the form and click "update me" and VOILA , you're on the list. If you haven't done so, please register via the NEW FORM , as we are cleaning up our old list and complying with newly enacted federal guidelines for spam control. The old email list was retired as of May 7, 2004. Thank you for your cooperation.

2. Velo-Cardio-Facial Syndrome velocardio-facial syndrome information, links to support groups, clinics, genetic counselors and geneticists Hospital of Philadelphia. velo-cardio-facial syndrome Research InstituteClosed July http://www.kumc.edu/gec/support/velo.html

Velo-Cardio-Facial Syndrome (22q deletion, chromosome 22q11.2 deletion, Shprintzen syndrome, DiGeorge syndrome) Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc. (also, spanish List of over 175 findings reported with 22qdel international groups Also See: National organizations with information on genetic conditions or birth defects 22q11 Deletion , GeneClinics DiGeorge Syndrome CHARGE syndrome 22q and you newslette r , Children's Hospital of Philadelphia Faces of Sunshine , 22q and You Center, Book, $10.00 US checks or money orders to "Clinical Genetics, Education Fund #27087-275760000 ( not purchase orders or credit card payment), c/o Melissa Tonnesen, MS, The Children’s Hospital of Philadelphia, The 22q and You Center, Main Building, Room 2150, 34th Street and Civic Center Blvd., Philadelphia, PA 19104, e-mail: tonnesen@email.chop.edu DiGeorge Syndrome , NIH, NCBI DiGeorge Anomaly , PEDBASE DiGeorge Syndrome , National Institutes of Health, National Library of Medicine DiGeorge Syndrome , Online Mendelian Inheritance in Man (OMIM) History of the 22q11.2 Deletion

3. Velo-Cardio-Facial Syndrome velocardio-facial syndrome Specialist Fact Sheet. For more information regardingvelo-cardio-facial syndrome, call, write, or email the Educational Foundation http://www.vcfsef.org/facts.html

Velo-Cardio-Facial Syndrome Specialist Fact Sheet Velo-cardio-facial syndrome (VCFS) , also known as Shprintzen syndrome , sometimes presenting as the DiGeorge sequence , is caused by a deletion of a small segment of the long arm of chromosome 22. It is one of the most common genetic disorders in humans. The following list shows the anomalies which have been found in VCFS. No findings have a 100% frequency, but all occur with sufficient frequency to warrant assessment if suspected. If you have any questions, or if you would like to learn more about VCFS, you may reach The Velo-Cardio-Facial Syndrome Educational Foundation by telephone at , by fax at , or by email at vcfsef@hscsyr.edu Craniofacial/Oral Findings 1. Overt, submucous or occult submucous cleft palate 2. Retrognathia (retruded lower jaw) 3. Platybasia (flat skull base) 4. Asymmetric crying facies in infancy 5. Structurally asymmetric face 6. Functionally asymmetric face 7. Vertical maxillary excess (long face) 8. Straight facial profile 9. Congenitally missing teeth 10. Small teeth

4. Velocardiofacial Syndrome [NIDCD Health Information] How common is velocardiofacial syndrome? 130,000 individuals in the United Stateshave this syndrome. velocardio-facial syndrome Educational Foundation, Inc. http://www.nidcd.nih.gov/health/voice/velocario.asp

Change text size: S M L Home ... Voice, Speech, and Language Velocardiofacial Syndrome On this page: What is velocardiofacial syndrome? What causes velocardiofacial syndrome? What are the features of velocardiofacial syndrome? How common is velocardiofacial syndrome? ... Where can I get additional information? What is velocardiofacial syndrome? Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty different features. (A disease or disorder that has more than one identifying feature or symptom is a syndrome.) The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems. Although VCFS is the most common syndrome associated with a cleft palate, it was not recognized until 1978, at which time Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York, described 12 children with the disorder. Most or all of these first 12 children were born with a cleft palate, heart defects and similar faces. VCFS may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome. Top What causes velocardiofacial syndrome?

5. SUNY Upstate Medical University: Department Of Otolaryngology And Communication Overview of VCFS describing condition, causes and red flags. Provides contacts for more information and treatment. By the Center for the Diagnosis, Treatment and Study of velocardio-facial syndrome, SUNY Upstate Medical University (USA). http://www.upstate.edu/ent/velo.shtml

Services Residency Program Craniomaxillofacial Fellowship Program ... Home ...Upstate Menu... Calendar Colleges: -Medicine -Graduate Studies -Nursing -Health Professions Contacting Upstate Departments E-mail Lookup Employment Library Search Page Telephone Lookup University Hospital Upstate Home Velo-Cardio-Facial Syndrom: Center for Diagnosis Treatment and Study A child with a single serious health problem is a major challenge for any family. But the families who seek out University Hospital's Robert Shprintzen, Ph.D., grapple with dozens of serious health problems. Their children suffer from Velo-Cardio-Facial Syndrome (VCFS), and Dr. Shprintzen is the world's authority on this complexand perplexingand surprisingly common genetic disorder High Occurrances Commonly known as Shprintzen syndrome, VCFS is a genetic condition that impairs almost every bodily function and occurs as often as one in every 2000 births. According to Dr. Shprintzen, this little-known syndrome could be second in frequency only to Down's syndrome. A staggering array of 180 anomalies are associated with Shprintzen syndrome. The problems first appear in infancy, when a child may suffer from: congenital heart abnormalities cleft palate serious feeding problems breathing problems.

6. Velo-Cardio-Facial Syndrome / The Family Village / Library Velocardiofacial Syndrome From the National Institutes of Health. A Parents’ GuideEverything You Need to Know About VeloCardio-Facial-Syndrome Di George http://www.familyvillage.wisc.edu/lib_vcfs.htm

Velo-Cardio-Facial Syndrome See Also: DiGeorge Syndrome Craniofacial Disorders Who to Contact Where to Go to Chat with Others ... Search Google for "Velo-Cardio-Facial Syndrome" Who to Contact VCFS Educational Foundation, Inc. Upstate Medical University University Hospital 708 Jacobsen Hall (C.D.U.) 750 East Adams Streeet Syracuse, NY 13210 Telephone: (315) 464-6590 FAX: (315) 464-6593 Email: vcfsef@mail.upstate.edu Web: http://www.vcfsef.org/ Where to Go to Chat with Others VCFS Discussion Forum VCFS The Velo-Cardio-Facial Syndrome and DiGeorge Syndrome List Learn More About It An Article from the OMIM Data Base Learning difficulties and the VCFS Child Velocardiofacial Syndrome From the National Institutes of Health A Brief Overview of Some Affected Areas A Parents’ Guide Everything You Need to Know About Velo-Cardio-Facial-Syndrome Di George Syndrome Frequently Asked Questions about VCFS Velo-Cardio-Facial Syndrome Research Web Sites Velo-Cardio-Facial Syndrome and DiGeorge Syndrome Velo-Cardio-Facial Syndrome Educational Foundation Velo-Cardio-Facial Syndrome The 22q11 Group - United Kingdom ... Whitney's Page Back to [ U - V Family Village Home Library Coffee Shop ... Information Last Updated 1/8/2003 by rowley@waisman.wisc.edu

7. VCFS The National Craniofacial Association. P. O. Box 11082 * Chattanooga, TN 37401. 800 332-2373. velo-cardio-facial syndrome. What is velo-cardio-facial syndrome? velo-cardio-facial syndrome. What http://www.faces-cranio.org/Disord/Velo.htm

The National Craniofacial Association P. O. Box 11082 * Chattanooga, TN 37401 Velo-cardio-facial Syndrome What is Velo-cardio-facial Syndrome? Velocardiofacial Syndrome, also known as VCFS or as Shprintzen Syndrome, is the most common syndrome associated with cleft palate. Approximately 1 in 2,000-5,000 children are born with VCFS. Characteristics include: a long face with a prominent upper jaw flattening of the cheeks an underdeveloped lower jaw a bluish color below the eyes a prominent nose with narrow nasal passages a long thin upper lip and a down-slanting mouth cleft palate or submucous cleft palate Why did this happen? Velocardiofacial Syndrome is an autosomal dominant condition. Genetic studies of children with this condition show that a microscopic segment on the long arm of chromosome 22 is missing. The genetic test for diagnosis of this condition is called "FISH analysis" and can be performed in many medical centers. It is not because of anything the mother did or did not do during the pregnancy. Will this happen to children I have in the future?

8. VCFS Educational Foundation, Inc Main Page Details about this organization as well as an extensive fact sheet about the disease. Includes details about support groups, a mission statement and contact information. http://vcfsef.org/

Velo-Cardio-Facial Syndrome Educational Foundation, Incorporated Site Updated: May 7, 2004 Quick Finder Choose from List Home About VCFS Contact Us FAQs Mission Membership Newsletters Officers Spanish Information Support Groups Your comments are welcome. This site maintained by: Kelvin P. Ringold Home About VCFS Contact Us ... 2004 Annual Conference Information July 23-25, 2004, including the conference details and Call for Abstracts. (pdf format) NOW AVAILABLE ONLINE: View the FULL CONFERENCE AGENDA OR download the PDF BROCHURE (Adobe Acrobat Reader required). NEW BOOK ON VCFS available. "Footprints of Hope: VCFS (Velo-Cardio-Facial Syndrome)", written by Mr. Raymond Tanner, of Australia. See more DETAILS HERE IMPORTANT! SIGN UP for our email newsletter . Just fill out the form and click "update me" and VOILA , you're on the list. If you haven't done so, please register via the NEW FORM , as we are cleaning up our old list and complying with newly enacted federal guidelines for spam control. The old email list was retired as of May 7, 2004. Thank you for your cooperation.

9. SAIDA, A definition of velocardio-facial syndrome along with a support group in Johannesburg. http://sunsite.wits.ac.za/saida/disorder/vcfs.html

10. Velo-Cardio-Facial Syndrome velocardio-facial syndrome Institute (VCFS) The velo-cardio-facial syndrome Institute (The Institute) is an organization of professionals associated with VCSF and http://www.kumc.edu/gec/vcfhome.html

Velo-Cardio-Facial Syndrome Institute (VCFS) VCFS Information Page and links - online information, including newsletters The Velo-Cardio-Facial Syndrome Institute (The Institute) is an organization of professionals associated with VCSF and its management. New England Region Maureen Anderson 2 Lansing Drive Salem, NH 03079 e-mail: mladja@aol.com International Affliates Julie Squair, United Kingdom or Philip Mellor - philip2211@cix.compulink.co.uk Linda Lawrie, Secretary, Australia Related information: CHARGE Syndrome Association " 22q and you " newsletter, Children's Hospital of Philadelphia To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

11. Síndrome Velocardiofacial [NIDCD Health Information] Translate this page velo-cardio-facial syndrome Education Foundation, Inc. (Fundación Educacional delSíndrome VeloCardioFacial) Upstate Medical University 750 East Adams Street http://www.nidcd.nih.gov/health/spanish/velocario_span.asp

Change text size: S M L Home ... Arriba American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) One Prince Street Alexandria, VA 22314 Voz: (703) 836-4444 TTY: (703) 519-1585 Fax: (703) 683-5100 webmaster@entnet.org Portal de Internet: www.entnet.org American Cleft Palate Craniofacial Association (ACPA) 104 S. Estes Drive Suite 204 Chapel Hill, NC 27514 Voz: (919) 933-9044 Fax: (919) 933-9604 cleftline@aol.com Portal de Internet: www.cleftline.org American Heart Association National Center 7272 Greenville Avenue Dallas, TX 75231-4596 Voz: (214) 373-6300 Portal de Internet: www.americanheart.org American Association of Human Genetics 9650 Rockville Pike Bethesda, MD 20814-3998 Voz: (301) 571-1825 Portal de Internet: www.faseb.org/genetics/ashg/ashgmenu.htm American Speech-Language-Hearing Association (ASHA) 10801 Rockville Pike Rockville, MD 20852 Voz: (301) 897-5700 TTY: (301) 897-0157 Fax: (301) 571-0457 actioncenter@asha.org Portal de Internet: www.asha.org Children's Craniofacial Association (CCA) 13140 Coit Road, Suite 307

12. Your Search: processing requests velocardio-facial syndrome. velo-cardio-facial syndrome (22q deletion, chromosome 22q11.2 deletion, Shprintzen syndrome, DiGeorge syndrome) velo-cardio-facial syndrome (VCFS) http://www.i-une.com/cgi-bin/meta/search.cgi?lang=en&keywords=Velo-Cardio-Fa

13. Velo-Cardio-Facial Syndrome Because this syndrome represents a region of a chromosome, the exact areas of that region affected may be different from child to child. velocardio-facial syndrome. My great-niece was born six http://www.parentsplace.com/health/illnesses/qas/0,10338,200533_101286,00.html

var cimsCid = ''; var cimsUid = '101286'; // Tacoda category stamp var dartCatStamp = "ppw_ppwhealth"; Tacoda_AMS_DDC_addPair("dartCatStamp", dartCatStamp); main iVILLAGE'S BEST: setImp('spn,prpl,bnav,0604') Summer Shape Up Self-Tanning Tips setImp('spn,yh,pers,bnav,0604') What Men Think Infertility Treatments SEARCH: iVillage the Web you are here: iVillage parentsplace health illnesses ... rare diseases setImp('ivl,frd,pp') watch this Birth From 21 Year Frozen Sperm Aspirin Enters The Cancer Fight Yahoo! Personals setImp("spn,yh,pers,iv,fourthcol_fs"); Volvo Safety Center Shop Amazon FIND A BOARD Choose one Deciding to Try Trying to Conceive TTC after 35 Clomid In-Vitro Fertilization Expecting Clubs Are You Pregnant? Pregnant after 35 Pregnant after Infertility Pregnant after a Loss Miscarriage Baby Names Car Seats Strollers Post-Baby Weight Loss Breastfeeding One Year Olds Cloth Diapering At-Home Moms Working Moms Freebies Frugal Living Cross-Stitching More boards FAMILY HEALTH RESOURCES Choose one 10-Minute Checkups Alternative Treatments Ask the Librarian Birth Control A-to-Z Disease Action Plans Drug Directory Expert Advice Health Calculator Health Organizations Herbal Remedies Kids' Symptom Solver Supplement Guide Symptom Solver Tests and Procedures Wellness Diets RECOMMENDED Are You Pregnant?

14. Velo-Cardio-Facial Syndrome of VCFS ResearchProject MOLECULAR ASPECTS OF THE velo-cardio-facial syndrome.......velocardio-facial syndrome Research Institute. http://www.kumc.edu/gec/support/vcfsres.html

Velo-Cardio-Facial Syndrome Research Institute Project Closed July 2002, research may continue under the Harvard Medical School IRB pending approval. Description of VCFS Research Project: MOLECULAR ASPECTS OF THE VELO-CARDIO-FACIAL SYNDROME In the molecular biology laboratories of Dr. Raju Kucherlapati, Dr. Arthur Skoultchi and Dr. Bernice Morrow at The Albert Einstein College of Medicine efforts to examine the molecular basis of a pair of related human genetic disorders: velo-cardio facial (VCFS) and DiGeorge (DGS) syndromes have been conducted for the past six years. Individuals affected by these disorders have several developmental defects including cardiac anomalies and psychiatric phenotypes. The individuals have a characteristic deletion of a part of human chromosome 22 and it is believed that the presence of a single copy of a gene(s) in this region (haploinsufficiency) causes the disorder. We are utilizing a combination of genetic and molecular biological approaches to identify the gene(s) responsible for these disorders. Rosalie Goldberg a genetic counselor at The Albert Einstein College of Medicine will be happy to answer your questions. Identification of genes for this disorder provides a unique opportunity to understand the molecular basis for the clinical findings of VCFS and DGS and to gain insight into normal human embryonic development. We have constructed a physical and genetic map of 22q11. By genotyping large numbers of VCFS/DGS patients with genetic markers that have been integrated within the physical map, we have been able to define their deletions. We have isolated several genes within the smallest region of deletion overlap, termed the critical region for VCFS/DGS. A major effort in the lab is to determine the pattern of expression of each gene during embryonic/fetal development as well as in adult tissues.

15. EMedicine - Velocardiofacial Syndrome : Article By Robert Ardinger, Jr, MD Goldberg RB, Young D, et al The velocardio-facial syndrome a clinical D, ShprintzenRJ, Goldberg RB Cardiac malformations in the velocardiofacial syndrome. http://www.emedicine.com/ped/topic2395.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Cardiology Velocardiofacial Syndrome Last Updated: June 20, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: VCFS, DiGeorge sequence, Shprintzen syndrome, Shprintzen's syndrome, 22q11 deletion AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert Ardinger, Jr, MD , Associate Professor, Department of Pediatrics, Division of Pediatric Cardiology, University of Kansas Medical Center Coauthor(s): Holly Ardinger, MD , Section Chief, Pediatric Genetics, Clinical Associate Professor, Department of Pediatrics, University of Kansas Medical Center Robert Ardinger, Jr, MD, is a member of the following medical societies: American Academy of Pediatrics , and American College of Cardiology Editor(s): Jeffrey Towbin, MD , Associate Chair of Pediatric/Cardiology, Professor, Departments of Pediatrics, Molecular and Human Genetics, Cardiovascular, Baylor College of Medicine and Texas Children's Hospital; Robert Konop, PharmD

16. Velo-Cardio-Facial Syndrome FREE NEWSLETTERS ParentsPlace Home Garden more newsletters. VeloCardio-FacialSyndrome My great-niece was born six weeks prematurely and has heart problems. http://www.parentsplace.com/health/illnesses/qas/0,,200533_101286,00.html

var cimsCid = ''; var cimsUid = '101286'; // Tacoda category stamp var dartCatStamp = "ppw_ppwhealth"; Tacoda_AMS_DDC_addPair("dartCatStamp", dartCatStamp); main iVILLAGE'S BEST: setImp('spn,prpl,bnav,0604') Summer Shape Up Self-Tanning Tips setImp('spn,yh,pers,bnav,0604') What Men Think Infertility Treatments SEARCH: iVillage the Web you are here: iVillage parentsplace health illnesses ... rare diseases setImp('ivl,frd,pp') watch this Birth From 21 Year Frozen Sperm Aspirin Enters The Cancer Fight Yahoo! Personals setImp("spn,yh,pers,iv,fourthcol_fs"); Volvo Safety Center Shop Amazon FIND A BOARD Choose one Deciding to Try Trying to Conceive TTC after 35 Clomid In-Vitro Fertilization Expecting Clubs Are You Pregnant? Pregnant after 35 Pregnant after Infertility Pregnant after a Loss Miscarriage Baby Names Car Seats Strollers Post-Baby Weight Loss Breastfeeding One Year Olds Cloth Diapering At-Home Moms Working Moms Freebies Frugal Living Cross-Stitching More boards FAMILY HEALTH RESOURCES Choose one 10-Minute Checkups Alternative Treatments Ask the Librarian Birth Control A-to-Z Disease Action Plans Drug Directory Expert Advice Health Calculator Health Organizations Herbal Remedies Kids' Symptom Solver Supplement Guide Symptom Solver Tests and Procedures Wellness Diets RECOMMENDED Are You Pregnant?

17. Special Child: Disorder Zone Archives - Velocardiofacial Syndrome I could explain VCFS to my son was that he has velocardio-facial syndrome. who areinvolved in raising a child with velocardiofacial syndrome, the following http://www.specialchild.com/archives/dz-029.html

Disorder Zone Archives Velocardiofacial Syndrome/ DiGeorge Syndrome Daniel Avram Keri Reigle Introduction Velocardiofacial syndrome (VCFS), also known as DiGeorge syndrome, is a disorder characterized by cleft palate, heart abnormalities, learning disabilities, and various other clinical findings. The name velocardiofacial comes from the Latin words "velum" meaning palate, "cardia" meaning heart, and "facies" having to do with the face. The cause of VCFS is unknown, however it is the result of a deletion of the long arm of chromosome 22 (22q11.2 deletion). It is said to be an autosomal dominant disorder, which means that only one parent needs to have the gene to pass it along to their children. When one of the parents has VCFS, the chances of their children having the syndrome is about 50/50 for each birth. Research has shown, however, that VCFS is inherited in only about 10 to 15 percent of the cases. Therefore, in most cases, neither parent has the syndrome or carries the defective gene and the cause of the deletion is unknown. VCFS is the fourth most common birth defect and occurs in 1 out of every 700 live births. Currently, 1 in every 2,000 people is said to have the disorder. Estimates show that there are over 130,000 individuals with this syndrome in the United States. The history of VCFS can be rather complicated. The first description of the syndrome was made in 1968 by Dr. William Strong. Since then, it was described by various other doctors and was given several different names including conotruncal anomaly face syndrome (CTAF), DiGeorge syndrome, Opitz G/BBB syndrome, and finally in 1978, it was identified as velocardiofacial syndrome. Since there are several diagnostic names for the disorder, many professionals now refer to patients simply as having a 22q11.2 deletion.

18. SUNY Upstate Medical University: Velo-Cardio-Facial Syndrome CenterCenter For Di Their children suffer from velocardio-facial syndrome (VCFS), and Dr. Shprintzenis the world s authority on this complex— perplexing — and surprisingly http://www.upstate.edu/ent/uhent/velo/

@import url(/ent/uhent/velo/includes/menu.css); @import url(/ent/uhent/velo/includes/local.css); High Occurrance Concrete Genetic Link Red Flags/Indicators Diagnosis ... Department of Otolaryngology Home ...Upstate Menu... Calendar Colleges: -Medicine -Graduate Studies -Nursing -Health Professions Contacting Upstate Departments E-mail Lookup Employment Library Search Page Telephone Lookup University Hospital Upstate Home A child with a single serious health problem is a major challenge for any family. But the families who seek out University Hospital's Robert Shprintzen, Ph.D., grapple with dozens of serious health problems. Their children suffer from Velo-Cardio-Facial Syndrome (VCFS), and Dr. Shprintzen is the world's authority on and surprisingly common genetic disorder. Content maintained by: Kelvin Ringold Last Modified: August 12, 2003 Patient Privacy Notice

19. Stanford Psychiatry Neuroimaging Laboratory: Velo-Cardio-Facial Syndrome What is velocardio-facial syndrome? velo-cardio-facial syndrome (VCFS) isa genetic, autosomal dominant condition defined by Shprintzen in 1978. http://spnl.stanford.edu/disorders/vcfs.htm

What is Velo-Cardio-Facial Syndrome? Velo-Cardio-Facial syndrome (VCFS) is a genetic, autosomal dominant condition defined by Shprintzen in 1978. Its frequency is estimated at 1 per 4000 live births. In most patients, a deletion (Figure 2) on chromosome 22q11.2 (Figure 1a and 1b) is responsible for the syndrome. Most of these deletions occur spontaneously (are not inherited from parent to child). Figure 1a. Click on the chromosome 22 (circled in red) to magnify the chromosome and see the region involved in VCFS. A 4-year-old girl with Velo-Cardio-Facial syndrome The features of VCFS include cardiac malformations, cleft palate or velopharyngal insufficiency, a characteristic facial appearance, learning disabilities and more than 40 other physical anomalies (Goldberg et al., 1993, http://www.vcfsef.org/facts.html Studies indicate that nearly half of individuals with VCFS have mental retardation. Particular problems with abstract reasoning, language delay, mood regulation, monotonous voice, and difficulties in social interaction have been described (Golding-Kushner et al., 1985). A nasal speech tone is observed in the vast majority of individuals with VCFS as well as difficulties with articulation whose origin is assumed to be the cleft palate and pharyngal hypotonia. Some researchers have described frequent behavioral or psychiatric problems in individuals with VCFS. For example, Shprintzen et al. (1992) observed that 10 to 20% of over 100 patients developed psychotic symptoms (particularly schizophrenia) during adulthood. Papolos et al (1996) also observed a high rate (70-100%) of psychiatric symptoms in 20 children and adolescents. These symptoms were described as similar to those occurring in individuals with bipolar (manic-depressive) disorder.

20. NORD - National Organization For Rare Disorders, Inc. trait. . Organizations related to Velocardiofacial Syndrome 22q andYou Center org. velocardio-facial syndrome Educational Foundation http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Velocardiofac

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