1. EPEC - Educating Parents Of Extra-special Children - Shprintzen Syndrome shprintzen syndrome. shprintzen syndrome. ShprintzenGoldberg Syndrome. RedFlags for shprintzen syndrome. Copyright © 2001-2002, EPEConline.com. http://www.epeconline.com/Shprintzen.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Shprintzen Syndrome A type of multiple congenital anomaly/mental retardation (MCA/MR) syndrome that includes multiple birth defects of the heart. Ventricular septal defect, atrial septal defect, tetralogy of Fallot, truncus arteriosus and other defects may be present. Alternate Terms Sedlackova Syndrome Velocardiofacial Sydrome VCF VCFS Velofacial Hypoplasia Additional Links To Explore United States National Library of Medicine Shprintzen Syndrome Shprintzen-Goldberg Syndrome Red Flags for Shprintzen Syndrome A Division of Richardson Enterprises Content Rating Any comments or questions about this site, please contact the Richardson Enterprises

2. SUNY Upstate Medical University: Department Of Otolaryngology And Communication Overview of VCFS describing condition, causes and red flags. Provides contacts for more information Category Health Conditions and Diseases VeloCardio-Facial Syndrome...... Commonly known as shprintzen syndrome, VCFS is a genetic condition that impairsalmost every bodily function and occurs as often as one in every 2000 births. http://www.upstate.edu/ent/velo.shtml

Services Residency Program Craniomaxillofacial Fellowship Program ... Home ...Upstate Menu... Contacting Upstate Upstate Calendar Telephone Lookup E-mail Lookup Colleges: -Medicine -Graduate Studies -Nursing -Health Professions Library Employment Departments Search Page 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 Hign 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.

3. EPEC - Educating Parents Of Extra-special Children - Velocardiofacial Syndrome VCFS may also be known as shprintzen syndrome, DiGeorge syndrome, Craniofacialsyndrome or Conotruncal Anomaly Unusual Face Syndrome. http://www.epeconline.com/Velocardiofacial.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Velocardiofacial Syndrome 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. What causes velocardiofacial syndrome?

4. DiGeorge Syndrome Shop here for Syndrome Identification for SpeechLanguage Pathologists An Illustrated PocketGuide and find more books by Robert J. Shprintzen. For a limited time, get free shipping on orders over $25! http://www.kumc.edu/gec/support/digeorge.html

DiGeorge syndrome 22q11 deletion syndrome 22q11 Deletion , GeneClinics DiGeorge Syndrome , Jeffrey Modell Foundation 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) 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 History of the 22q11.2 Deletion , DM McDonald-McGinn and EH Zackai Medical needs of children with the 22q11.2 deletion , 22q and You, Children's Hospital of Philadelphia International resouces The 22q11 Group DiGeorge syndrome sites francophones Generation 22 Also See: National organizations information on genetic conditions or birth defects Information for Siblings and Family Members CHARGE association Chromosome 22 Velo-cardio-facial syndrome ... Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc.

5. VCFS Educational Foundation, Inc Main Page Details about this organization as well as an extensive fact sheet about the disease. Includes details Category Health Conditions and Diseases VeloCardio-Facial Syndrome...... VCFS also known as the shprintzen syndrome, DiGeorge Sequence and, regrettably,Catch 22 is caused by the deletion of a small segment of the long arm of http://www.vcfsef.org/

Velo-Cardio-Facial Syndrome Educational Foundation, Incorporated You are visitor number: Site Updated: Mar 1, 2003 2003 VCFSEF Conference (Click Photo Below) August 1 - 3, 2003 San Diego, California 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 ... WHATZ NEW? Register for the 9th Annual VCFSEF Conference in San Diego, CA CLICK HERE for more info Welcome to the Official Web Site of the Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc. The Foundation is an international not-for-profit, self-help organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners. The Foundation is independent of and not affiliated with any particular institution. VCFS also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans. Velo-Cardio-Facial syndrome is characterized by cleft palate, heart abnormalities, learning disabilities, and over 180 other clinical findings. Please see the

6. VCF Educational Foundation VCFS also known as the shprintzen syndrome, DiGeorge Sequence and, regrettably,Catch 22 is caused by the deletion of a small segment of the long arm of http://www.vcfsef.org/home.html

Velo-Cardio-Facial Syndrome Educational Foundation, Inc Robert J. Shprintzen, Ph.D. Executive Director Welcome to the Official Web Site of the Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc. The Foundation is an international not-for-profit, self-help organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners. The Foundation is independent of and not affiliated with any particular institution. VCFS also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans. Velo-Cardio-Facial syndrome is characterized by cleft palate, heart abnormalities, learning disabilities, and over 180 other clinical findings. Please see the VCFS Fact Sheet for details ( requires Adobe Acrobat Reader The VCFS Educational Foundation, Inc. is committed to educating the lay and professional public by: offering family programs facilitating parent-to-parent networking distributing educational materials concerning Velo-Cardio-Facial syndrome publishing a periodic information newsletter hosting an annual conference for laymen and professionals Please choose from our menu (left column) for more information regarding velo-cardio-facial syndrome, including membership in the Foundation. If you have further questions, please contact

7. Family Village / Site Map / S Baby Syndrome; Shoes Adaptive; Short-Chain Acyl-CoA DehydrogenaseDeficiency; Short Stature; shprintzen syndrome; Shwachman Syndrome; http://www.familyvillage.wisc.edu/map/s.html

A B C D ... Q R S T U V W X Y Z ... Q R S T U V W X Y Z ... Information Last Updated Thursday, March 7, 2002 by rowley@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/map/s.html

8. Shprintzen Syndrome Professionals only. shprintzen syndrome,, Print this article, (RobertJ. Shprintzen, 20th century, American geneticist) (also called http://www.amershamhealth.com/medcyclopaedia/Volume V 2/SHPRINTZEN SYNDROME.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Shprintzen syndrome, (Robert J. Shprintzen, 20th century, American geneticist) (also called velocardiofacial syndrome), inherited group of disorders consisting of cleft palate , prominent nose, learning and behavioural disabilities and cardiovascular anomalies. The cardiovascular anomalies consist of ventricular septal defect tetralogy of Fallot and right aortic arch CBH The Encyclopaedia of Medical Imaging Volume V:2 Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe?

9. Velocardiofacial Syndrome Velocardiofacial syndrome,, Print this article, see shprintzen syndromeCBH The Encyclopaedia of Medical Imaging Volume V2, Disclaimer http://www.amershamhealth.com/medcyclopaedia/Volume V 2/VELOCARDIOFACIAL SYNDROM

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Velocardiofacial syndrome, see Shprintzen syndrome CBH The Encyclopaedia of Medical Imaging Volume V:2 Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe? Yes No Are you a medical professional? Yes No This frame will disappear when submitted Legal Contact us Making Waves

10. VCFS, DiGeorge Syndrome, Etc 22q11 DELETION SYNDROME VELOCARDIO-FACIAL SYNDROME, shprintzen syndrome,DiGEORGESYNDROME, CATCH22, CONOTRUNCAL FACE ANOMALY, (Cayler-Cardio-Facial Syndrome http://www.nt.net/~a815/vcfs.htm

22q11 DELETION SYNDROME VELO-CARDIO-FACIAL SYNDROME, SHPRINTZEN SYNDROME,DiGEORGE SYNDROME,CATCH22, CONOTRUNCAL FACE ANOMALY (Cayler-Cardio-Facial Syndrome, CHARGE Association, OPITZ G/BBB) Studies for 22q11 deletion are ongoing at these centers. Children's Hospital of Philadelphia Clinical Genetics 34 th and Civic Center Blvd. Philadelphia, PA 19104 Tel: (215) 590-2920 The VCFS Educational Foundation Dr. Robert J. Shprintzen Jacobsen Hall, 707 SUNY Health Science Center at Syracuse 750 East Adams Street Syracuse, NY 13210 Tel: (315) 464-6590 fax (315) 464-5321 Albert Einstein College of Medicine Dept of Molecular Genetics 1300 Morris Park Avenue Bronx, NY 10461 tel: 718-430-4274 The Rockefeller University 1230 York Avenue Box 45 New York NY 10131-3100 tel:1-888-920-9100 toll free LIST OF 22q11 REFERENCE ARTICLES Internet VCFS support e-mail list 22q deletion Interest Board Become a member of C22C Please note that this page was created by a Mom, not a genetics expert and the absolute best places to find info on this disorder are the centers linked above, or in the links below. This site is merely for basic background, where parents can meet and share their stories, and find links to other excellent sources of info. If you see any discrepancies in anything I have written, PLEASE write and correct me, or if you think something should be added, links or info, feel free to contact me at

11. The DRM WebWatcher: Velo-Cardio-Facial Syndrome It is also called shprintzen syndrome, DiGeorge syndrome, craniofacial syndrome,conotruncal anomaly unusual face syndrome, 22q11, and catch 22. http://www.disabilityresources.org/VELO.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Velo-Cardio-Facial Syndrome (Shprintzen Syndrome) Updated 3/26/2001 A B C D ... About/Hint/Link Velo-Cardio-Facial syndrome (VCFS) is a genetic disorder that has been associated with over thirty different features, including cleft palate, heart defects, characteristic facial appearance, minor learning problems, and speech and feeding problems. It is caused by a deletion of a small segment of chromosome 22. It is also called Shprintzen syndrome, DiGeorge syndrome, craniofacial syndrome, conotruncal anomaly unusual face syndrome, 22q11, and catch 22. 22q and You Newsletter This quarterly publication of The Children's Hospital of Philadelphia also provides information about the history and medical needs of children with 22q.11 deletions. 22q11 Deletion Syndrome This GeneClinics page provides clinical information relating genetic testing to the diagnosis, management, and genetic counseling of individuals and families. Velo-Cardio-Facial Syndrome Though not recently updated, this website by the parents of a child with VCFS includes a useful selection of articles and abstracts, support groups, personal contacts, and more.

12. The DRM WebWatcher: Index: S Assistive Technology Shareware, Freeware Demos) * Shoes (Adaptive Clothingand Shoes) * shprintzen syndrome (Velo-Cardio-Facial Syndrome) Sign Language http://www.disabilityresources.org/S.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher (Subjects) Index: S Updated 9/2001 A B C D ... R S T U V W ... About/Hint/Link Scroll down to find the subject or disability that interests you. A red asterisk ( ) indicates cross-disability interest. Safety (Disaster Preparedness for People with Disabilities) Scholarships (Higher Education - Funding) Schizophrenia Schools (Education) ... Systemic Lupus Erythematosus (SLE) (Lupus) (c) 1997-2001 Disability Resources, inc.

13. Search Jablonski's Syndromes Database Similar pages shprintzen syndromeMultiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. View theFull Record Syndrome, shprintzen syndrome. Synonyms, Sedlacková syndrome. http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Shprintzen syndrome&field

14. Online And Offline Support: V V. Velo Cardio Facial Syndrome/Di George Syndrome/shprintzen syndrome.VeloCardio-Facial Syndrome Information Page (Internet) People http://www.widesmiles.org/support/v.html

V Velo Cardio Facial Syndrome/Di George Syndrome/Shprintzen Syndrome Velo-Cardio-Facial Syndrome Information Page (Internet) People served: Individuals and families dealing with Velo-Cardio-Facial Syndrome/Di George Syndrome/Shprintzen Syndrome Services provided: Information and referral for both online and offline and photo gallery Contact people: David and Susan Marchette Email addresses: marchett@crosslink.net or speech@crosslink.net Website: http://www.crosslink.net/~marchett/vcfs/vcfs.shtml The 22q11 Group (United Kingdom) People served: Individuals and families dealing with Velo-Cardio-Facial Syndrome/Di George Syndrome/Shprintzen Syndrome Services provided: Information and resources, listserv Email address: julie@vcfs.net or heather@vcfs.net Website: http://www.vcfs.net/ Velo-Cardio-Facial Syndrome Educational Institute (United States) People served: Individuals and families dealing with Velo-Cardio-Facial Syndrome/Di George Syndrome/Shprintzen Syndrome Services provided: Education and advocacy, networking, newsletter, support groups Address: Upstate Medical University, University Hospital

15. Untitled http//www3.ncbi.nlm.nih.gov/htbinpost/Omim/dispmim?188400. - Information andSupport for DiGeorge and shprintzen syndrome Families (ISF DSF) DiGeorge http://www.widesmiles.org/cleftlinks/WS-583.html

You'll find hundreds of files on cleft lip, cleft palate here on widesmiles.org This one is about: DiGeorge Syndrome (c) 1997 Wide Smiles This Document is from WideSmiles Website - www.widesmiles.org Reprint in whole or in part, with out written permission from Wide Smiles is prohibited. Email: widesmiles@aol.com Below are several references on DIGEORGE Syndrome: You can find additional info here as well: Digeorge Syndrome can be located at: http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?188400 Information and Support for DiGeorge and Shprintzen Syndrome Families (ISF DSF) DiGeorge Syndrome Shprintzen Syndrome VeloCardioFacial Syndrome 22q11.2 Deletions Address: 27859 Lassen Street; Castaic, CA 91384 Contact person: Natalie Ward, President Phone: 805-294-3623 Founded: 1992 Membership: 100 families This is from the Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 6/15/94 DIGEORGE ANOMALY http://www.icondata.com/health/pedbase/files/DIGEORGE.HTM (the following is the complete page, no other info on it available here) DEFINITION: A disorder characterized by injury to a developmental field affecting the development of pharyngeal pouches resulting in cardiac, facial, immune, and parathyroid anomalies.

16. HeartCenterOnline For Patients - For Your Heart Health VCF (shprintzen syndrome). VCFS (shprintzen syndrome). VCG (Vectorcardiogram).Vectorcardiogram. Vein Stripping. Velocardiofacial Sydrome (shprintzen syndrome). http://www.heartcenteronline.com/myheartdr/search/alpha3.cfm?startletter=V&curpa

17. HeartCenterOnline For Patients - For Your Heart Health Device) Vasculature Vasculitis Vasoconstrictor Vasodilators Vasopressor VasospasmVasovagal Syncope (Syncope) VCF (shprintzen syndrome) VCFS (Shprintzen http://www.heartcenteronline.com/myheartdr/glossary/index.cfm?startletter=V&curp

18. The Contact A Family Directory - 22Q11 DELETIONS 22q11 Deletions DiGeorge syndrome (DGS) velocardio-facial syndrome(VCFS) shprintzen syndrome CATCH 22. The effects of this http://www.cafamily.org.uk/Direct/22.html

printer friendly 22Q11 DELETIONS home more about us in your area conditions information ... how you can help search this site 22q11 Deletions: DiGeorge syndrome (DGS): velo-cardio-facial syndrome (VCFS): Shprintzen syndrome: CATCH 22 The effects of this chromosome deletion are extremely variable and the syndrome is given a variety of names, such as Velo-cardio-facial syndrome (VCFS) (see separate entry), DiGeorge syndrome (DGS) (see separate entry), Shprintzen syndrome, 22q11 deletion syndrome or CATCH 22, depending on the symptoms and signs in an individual and who makes the diagnosis. The most frequently noted problems are congenital heart defects , reduced resistance to infection due to partial or complete absence of the thymus gland, low calcium levels due to abnormality of the parathyroid glands, cleft palate or abnormal function of the palate, learning difficulties and/or delayed development, which is usually mild. Short stature is common and there tends to be a characteristic facial appearance with unusually small head, small mouth and prominent nose. Inheritance patterns Autosomal dominant inheritance, although many cases are sporadic (not inherited from either parent).

19. The Contact A Family Directory - VELO-CARDIO-FACIAL SYNDROME VELOCARDIO-FACIAL SYNDROME VCFS shprintzen syndrome 22q11deletionDiGeorge syndrome CATCH 22. The velo-cardio-facial syndrome http://www.cafamily.org.uk/Direct/v14.html

printer friendly VELO-CARDIO-FACIAL SYNDROME home more about us in your area conditions information ... how you can help search this site VELO-CARDIO-FACIAL SYNDROME: VCFS: SHPRINTZEN SYNDROME: 22q11deletion: DiGeorge syndrome: CATCH 22 The velo-cardio-facial syndrome combines congenital heart abnormalities with cleft palate , short stature and a characteristic facial appearance: unusually small head, prominent nose and small mouth and chin. Developmental delay and/or learning difficulties , which are usually mild, may occur. The number and severity of symptoms may vary greatly from case to case. There is considerable overlap with DiGeorge syndrome , and the majority of patients in both these groups can be shown to have a tiny piece missing from the long arm of one of the 22nd pair of chromosomes. This is known as a 22q11 deletion . The effects of this deletion are extremely variable and the syndrome is given a variety of names, (for example, Velo-cardio-facial syndrome (VCFS), DiGeorge syndrome (DGS), Shprintzen syndrome, 22q11 deletion syndrome, CATCH 22), depending on the symptoms and signs in an individual and who makes the diagnosis. Inheritance patterns Autosomal dominant inheritance, although many cases are sporadic.

20. EMedicine - DiGeorge Syndrome : Article Excerpt By: Sridhar Guduri, MD Conditions associated with DiGeorge syndrome are 22q11 deletion syndromes, velocardiofacialsyndrome (VCFS or shprintzen syndrome), conotruncal anomaly face http://www.emedicine.com/med/byname/digeorge-syndrome.htm

(advertisement) Excerpt from DiGeorge Syndrome Synonyms, Key Words, and Related Terms: DiGeorge anomaly, DGA, thymic hypoplasia, thymic aplasia, third and fourth pouch syndrome, third and fourth arch syndrome, cellular immunodeficiency, hypoparathyroidism, 22q11 deletion syndromes, velocardiofacial syndrome, VCFS, Shprintzen syndrome, conotruncal anomaly face syndrome, Caylor syndrome, Opitz-GBBB syndrome, CHARGE syndrome, coloboma, heart anomalies, atresia of choanae, retardation, genital hypoplasia, ear anomalies, hypocalcemia, fetal alcohol syndrome, FAS Please click here to view the full topic text: DiGeorge Syndrome Background: Conditions associated with DiGeorge syndrome are 22q11 deletion syndromes, velocardiofacial syndrome ([VCFS] or Shprintzen syndrome), conotruncal anomaly face syndrome, Caylor syndrome, Opitz-GBBB syndrome, and CHARGE (coloboma, heart anomalies, atresia of choanae, retardation [mental and somatic], genital hypoplasia, and ear anomalies) syndrome. DiGeorge anomaly (DGA) is a congenital immunodeficiency characterized by abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathological hallmarks include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. Although this condition is commonly known as DiGeorge syndrome, the term DiGeorge anomaly is more appropriate. The constellation of defects is not a syndrome resulting from a single cause, but rather the failure of an embryological field to develop normally.

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