21. EMedicine - DiGeorge Syndrome : Article By Sridhar Guduri, MD 22q11 deletion syndromes VCFS (shprintzen syndrome) Conotruncal anomaly facesyndrome Caylor syndrome OpitzGBBB syndrome CHARGE syndrome http://www.emedicine.com/med/topic567.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Medicine, Ob/Gyn, Psychiatry, and Surgery Allergy And Immunology DiGeorge Syndrome Last Updated: May 28, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: 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 AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Sridhar Guduri, MD

22. EMedicine - Velocardiofacial Syndrome : Article By Robert Ardinger, Jr, MD Robert Shprintzen et al first described it in 1978. Synonyms and relatedkeywords VCFS, DiGeorge sequence, shprintzen syndrome, Shprintzen s syndrome, http://www.emedicine.com/ped/topic2395.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Cardiology Velocardiofacial Syndrome Last Updated: October 27, 2004 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

23. CHROMOSOME 22 CENTRAL VELOCARDIO-FACIAL SYNDROME, shprintzen syndrome,DiGEORGE SYNDROME,CATCH22,CONOTRUNCAL FACE ANOMALY (Cayler-Cardio-Facial Syndrome, CHARGE Association, http://www.nt.net/~a815/vcfs.htm

SUPPORT FOR CHROMOSOME 22 RELATED DISORDERS Click here for an online membership form to JOIN US! Registered members receive our newsletter and can choose to be listed in our parent registry. Also, join our discussion list What would you like to do? I want to learn about chromosome 22 disorders I want to find out about current news I want to learn about current research I want to connect with other families ... on other genetic disorders I want to return to the main index We are proud members of the Genetic Alliance. Volunteers, professional input and donations are welcomed CENTERS FOR SUPPORT/RESEARCH Children's Hospital of Philadelphia Clinical Genetics 34 th and Civic Center Blvd. Philadelphia, PA 19104 Tel: (215) 590-2920 The Velo-Cardio-Facial Syndrome Educational Foundation, Inc Karen J. Golding-Kushner, Ph.D., Executive Director P.O. Box 874

24. Shprintzen Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume V 2/SHPRINTZEN SYNDR

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com 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 Corporate Products Financial Services Our Commitment ... Terms of Conditions

25. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Conditions DiGeorge Syndrome; shprintzen syndrome; Chromosome Abnormalities;Abnormalities, Multiple; Conotruncal Cardiac Defects http://www.clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/az/S

26. 22q11.2 Deletion Syndrome - Genetics Home Reference Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (alsocalled shprintzen syndrome), and conotruncal anomaly face syndrome. http://ghr.nlm.nih.gov/condition=22q112deletionsyndrome

Home What's New Browse Handbook ... Search 22q11.2 deletion syndrome Related Chromosome(s) Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog References 22q11.2 deletion syndrome On this page: What is 22q11.2 deletion syndrome? How common is 22q11.2 deletion syndrome? ... help with understanding 22q11.2 deletion syndrome? What is 22q11.2 deletion syndrome? 22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms include heart defects that are often present from birth, an opening in the roof of the mouth (a cleft palate or other defect in the palate), learning disabilities, recurrent infections caused by problems with the immune system, and mild differences in facial features. Affected individuals may also have kidney abnormalities, low levels of calcium in the blood (which can result in seizures), significant feeding difficulties, autoimmune disorders such as rheumatoid arthritis, and an increased risk of developing mental illnesses such as schizophrenia and bipolar disorder.

27. Heart And Circulation - Genetics Home Reference Sedlackova syndrome see 22q11.2 deletion syndrome; shprintzen syndrome see22q11.2 deletion syndrome; SLO syndrome see SmithLemli-Opitz syndrome http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/heartandcirculation

Home What's New Browse Handbook ... Search Browse Browse Conditions By Name By Category Browse Genes By Symbol By Full Name By Category Browse Chromosomes Heart and circulation The circulation system is composed of the heart, blood vessels (arteries, veins, and capillaries), and blood. The circulatory system delivers oxygen and nutrients to cells and carries away waste. Altered genes may disrupt the development or function of the circulatory system. Alagille syndrome Alpha-galactosidase A deficiency see Fabry disease Andersen cardiodysrhythmic periodic paralysis see Andersen-Tawil syndrome Andersen syndrome see Andersen-Tawil syndrome Andersen-Tawil syndrome Anderson-Fabry Disease see Fabry disease Angiokeratoma Corporis Diffusum see Fabry disease Angiokeratoma diffuse see Fabry disease Arachnodactyly see Marfan syndrome Arteriohepatic Dysplasia see Alagille syndrome Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type ATS see Andersen-Tawil syndrome Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome Ayerza Syndrome see primary pulmonary hypertension Bartholin-Patau syndrome see Patau syndrome BDLS see Cornelia de Lange syndrome Bile ducts paucity, syndromic form

28. Velo-Cardio-Facial Syndrome, Cincinnati Children's Hospital Medical Center Velocardiofacial Syndrome (VCFS). shprintzen syndrome, Craniofacial Syndrome orConotruncal Anomaly Face Syndrome. Look up a term in The Heart Center http://www.cincinnatichildrens.org/health/heart-encyclopedia/disease/syndrome/vc

Home Contact Us Site Map Go to Advanced Search ... Marfan Syndrome Velo-Cardio-Facial Syndrome VACTERL or VATER Association Signs and Symptoms Cardiac-Related Diagnostic Methods Treatment Options ... Contact Us Heart-Related Syndromes Velocardiofacial Syndrome (VCFS) Shprintzen Syndrome, Craniofacial Syndrome or Conotruncal Anomaly Face Syndrome Explanation Causes How Common? Kinds of Problems ... Resources What is velocardiofacial syndrome? Velocardiofacial Syndrome might be referred to by other names including Shprintzen Syndrome, Craniofacial Syndrome, or Conotruncal Anomaly Face Syndrome. The name Shprintzen Syndrome comes from physician Dr. Robert Shprintzen of the Center for Craniofacial Disorders, who, in 1978, described a series of 12 children with a cleft palate (incomplete closure of the roof of the mouth), heart defects (abnormalities of the heart from the time of birth) and similar facial characteristics. The name Velocardiofacial Syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart, and "facies" having to do with the face thus incorporating the most common features of cleft palate, heart defects, and a characteristic facial appearance. Other common findings include minor learning problems and speech and feeding problems.

29. Hill Health Topics A-Z - Velocardiofacial Syndrome shprintzen syndrome; Conotruncal Anomaly Face Syndrome; Craniofacial Syndrome The syndrome is associated with many different features, and not all will http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord853&SE

30. Goldberg-Shprintzen Syndrome Goldbergshprintzen syndrome associates microcephaly, mental retardation, germline mutations of KIAA1279 in Goldberg-shprintzen syndrome (GOSHS) http://www.humpath.com/article.php3?id_article=6645

31. 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 3/30/2004 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.

32. Chromosome 22 Syndromes 68% of shprintzen syndrome patients have been recognized to have Also knownas shprintzen syndrome, and sometimes presenting as the DiGeorge Sequence http://ibis-birthdefects.org/start/digeorge.htm

Tips for printing Chromosome 22 related Syndromes Cat Eye CES CHARGE DiGeorge Shprintzen VCF Velocardiofacial About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Cleft Lip Palate Micrognathia Pierre Robin Support Groups ... Key Information Sources Topics Include the Titles above and 11 / 22 Translocation 22q11 Deletion S. Conotruncal Face A. Hypoplasia of Thymus and Parathyroids S. Opitz S. Schmid Fraccaro S. Takao VCF S. Third and Fourth Pharyngeal Pouch S. VCFS Special Resources DiGeorge A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Dutch] [French] [German] [Spanish] [Swedish] [Ukrainian] [S] C22C Chromosome 22 Central from PARENT SUPPORT GROUP FOR CHROMOSOME 22 RELATED DISORDERS COMPLETE TRISOMY 22 from PARENT SUPPORT GROUP Complete trisomy 22 happens when an extra (third) copy of chromosome 22 is present in every cell of the body ... CLINICAL FEATURES MAY INCLUDE microcephaly abnormal ears webbed neck cadiac abnormalities long fingers kidney problems (missing, extra, or underdeveloped kidneys)

33. Velocardiofacial Syndrome Velocardiofacial syndrome, (VCFS), a rare genetic disorder, Synonyms.shprintzen syndrome; Conotruncal Anomaly Face Syndrome; Craniofacial Syndrome http://www.bchealthguide.org/kbase/nord/nord853.htm

var hwPrint=1;var hwDocHWID="nord853";var hwDocTitle="Velocardiofacial Syndrome";var hwRank="1";var hwSectionHWID="nord853-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Velocardiofacial Syndrome 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/or learning disabilities. 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.

34. 22Q11 DELETION SYNDROMES: Contact A Family - For Families With Disabled Children all forms of 22q11 deletions including DiGeorge syndrome, VeloCardio-Facialsyndrome, shprintzen syndrome and the 22q11 form of Opitz G/BBB syndrome. http://www.cafamily.org.uk/Direct/22.html

printer friendly 22Q11 DELETION SYNDROMES home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no 22q11 Deletions: DiGeorge syndrome (DGS); velo-cardio-facial syndrome (VCFS); Shprintzen syndrome; CATCH 22 The chromosome 22q11 deletion is found in a wide variety of apparently unrelated conditions. The deletion was first recognized in 1981 in Di George syndrome , affecting the heart, calcium and resistance to infection and occasionally the palate. Velo-cardio-facial syndrome (VCFS) with disorders in structure and function of the palate, heart defect and a facial appearance with features similar to each other, also known as Shprintzen syndrome, was considered a quite separate condition until the genetic basis was found to be the same as Di George in 1988. In Japan it was called conotruncal anomaly face syndrome. It has also been called CATCH 22, after some of the most important medical features (C=cleft palate, A=appearance, T=thymus/immunology deficiency, C=calcium salt low, H=heart defect), but this name is not favoured when describing people. The effects can be seen as a range of severity from mild to moderate in VCFS, to more severe in Di George syndrome.

35. PHP : Resource Details Velocardiofacial Syndrome Support Groupshprintzen syndrome Sponsored by SierraNursing Services, Inc. Address, 426 Upton Street http://www.php.com/include/agency/agency_item.php?AgencyID=2408&where_keywords=

36. Velocardiofacial Syndrome VELOCARDIOFACIAL SYNDROME (Conotruncal Anomaly Unusual Face Syndrome; Craniofacialsyndrome ; DiGeorge syndrome; shprintzen syndrome) http://www.icongrouponline.com/health/Velocardiofacial_Syndrome.html

ICON Health Publications Official Health Sourcebooks Search ICON Health Titles: The Official Parent's Sourcebook on VELOCARDIOFACIAL SYNDROME (Conotruncal Anomaly Unusual Face Syndrome; Craniofacial syndrome ; DiGeorge syndrome; Shprintzen syndrome) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $24.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on velocardiofacial syndrome. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Conotruncal Anomaly Unusual Face Syndrome; Craniofacial syndrome ; DiGeorge syndrome; Shprintzen syndrome Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Velocardiofacial Syndrome: Guidelines Overview What Is Velocardiofacial Syndrome?

37. Online And Offline Support: V Velo Cardio Facial Syndrome/Di George Syndrome/shprintzen syndrome. VeloCardio-FacialSyndrome Information Page (Internet). People served Individuals and 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

38. You Ll Find Hundreds Of Files On Cleft Lip, Cleft Palate Here On Information and Support for DiGeorge and shprintzen syndrome Families (ISF DSF)DiGeorge Syndrome shprintzen syndrome VeloCardioFacial Syndrome 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.

39. Mowat-Wilson Syndrome And Mutation In The Zinc Finger Homeo Box 1B Gene: A Well Goldbergshprintzen syndrome report of a new family and review of the literature . Pachygyria and cerebellar hypoplasia in Goldberg-shprintzen syndrome. http://jmg.bmjjournals.com/cgi/content/full/41/2/e16

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Cerruti Mainardi, P Articles by Rauch, A Related Collections Online mutation reports Journal of Medical Genetics BMJ Publishing Group Ltd ONLINE MUTATION REPORT P Cerruti Mainardi G Pastore C Zweier and A Rauch Pediatric Department and Genetics Unit, S. Andrea Hospital, Vercelli, Italy Institute of Human Genetics, Friedrich Alexander University of Erlangen-Nuremberg, Erlangen, Germany Correspondence to: Dr P Cerruti Mainardi Received 11 April 2003 Accepted for publication 3 June 2003 Keywords: Abbreviations: HSCR, Hirschsprung disease

40. A Consanguineous Family With Hirschsprung Disease, Microcephaly, And Mental Reta microcephaly, and mental retardation (Goldbergshprintzen syndrome) in these children represents the Goldberg-shprintzen syndrome (OMIM 235730). http://jmg.bmjjournals.com/cgi/content/abstract/36/6/485

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Brooks, A. S Articles by Hofstra, R. M W Related Collections Genetics J Med Genet 485-489 ( June ) Short report A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) Alice S Brooks a b Martijn H Breuning a c Jan Osinga d Jasper J vd Smagt c Corine E Catsman e Charles H C M Buys d Carel Meijers b f Robert M W Hofstra d a Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands, b Department of Paediatric Surgery, Erasmus University and University Hospital, Rotterdam, The Netherlands

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