21. 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, and further studies are listed here 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 YAHOO FAMILY SUPPORT GROUP UK/EUROPE SUPPORT GROUP SUPPORT FOR ADULTS AND TEENS LIST OF 22q11 REFERENCE ARTICLES ... 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 a815@c22c.org

22. 766: Congenital Heart Disease In Goldberg-Shprintzen Syndrome. Congenital heart disease in Goldbergshprintzen syndrome. MG Bialer, SB Ritz,ME Olson. Findings are suggestive of Goldberg-shprintzen syndrome (GSS). http://www.faseb.org/genetics/ashg99/f766.htm

Program Nr: 766 Congenital heart disease in Goldberg-Shprintzen syndrome. M.G. Bialer, S.B. Ritz, M.E. Olson. Dept Pediatrics, North Shore Univ. Hospital/NYU School of Medicine, Manhasset, NY.

23. UAB Health System | DiGeorge Syndrome Dr. Shprintzen named this group of features velocardio-facial syndrome,but the syndrome was also referred to as shprintzen syndrome. http://www.health.uab.edu/show.asp?durki=64298

24. Velo-Cardio-Facial Syndrome link to Genetics Education Center Support Page VeloCardio-Facial Syndrome (22q deletion,chromosome 22q11.2 deletion, shprintzen syndrome, DiGeorge syndrome) 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

25. Chromosomal Conditions piece of missing chromosome material at breakpoint 22q11, deletion is associatedwith VeloCardio-Facial Syndrome (VCFS, shprintzen syndrome), DiGeorge Sequence http://www.kumc.edu/gec/support/chromoso.html

Support Groups for Chromosomal Conditions Down syndrome, trisomy 18, trisomy 13, 11q, trisomy 9, 4p-, cri-du-chat, deletions , inversions, duplications, translocations, ring, sex-chromosome anomalies, mosaicism , fragile-x syndrome, other trisomy, variations, cancer cytogenetics , other cytogenetic resources All Chromosomal Conditions (deletions, translocations, trisomy, other) Chromosome Deletion Outreach P.O. Box 724, Boca Raton, FL 33429-0724 Phone: 888.236.6880 (toll free) E-mail: info@chromodisorder.org Web site: www.chromodisorder.org/ UNIQUE: Rare Chromosome Disorder Support Group P.O.Box 2189, Caterham Surrey CR3 5GN England Telephone: 44 (0)1883 330766 E-mail: info@rarechromo.org URL: www.rarechromo.org Little Yellow Book: Guide to Rare Chromosome Disorders (.pdf file) Chromosome Mosaicism Caring, Inc. PO Box 400, Milton, WA 98354 Phone: 206.922.8607 Trisomy Online , family site Trisomy Net Ring family sites about Trisomy and related information Chromosome Rearrangements Discovered Through Prenatal Diagnosis , booklet for families about unusual chromosome abnormalities detected by prenatal diagnosis. Inversions, translocations and markers. Also in

26. 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

27. HeartCenterOnline For Patients - For Your Heart Health Sedimentation Rate. Sedlackova Syndrome (shprintzen syndrome). Senning Procedure(Intraatrial Baffle). Sepsis. Shortness of Breath. shprintzen syndrome. Shunt. http://www.heartcenteronline.com/myheartdr/search/alpha3.cfm?startletter=S&curpa

28. 22q11.2 Deletion Syndrome 22q11.2 Deletion Syndrome. del 22q11.2. Includes DiGeorge Syndrome (DGS), VelocardiofacialSyndrome (VCFS), shprintzen syndrome, Conotruncal Anomaly Face http://www.geneclinics.org/profiles/22q11deletion/details.html

22q11.2 Deletion Syndrome del 22q11.2. Includes: DiGeorge Syndrome (DGS), Velocardiofacial Syndrome (VCFS), Shprintzen Syndrome, Conotruncal Anomaly Face Syndrome (CTAF), Caylor Cardiofacial Syndrome, Autosomal Dominant Opitz G/BBB Syndrome] Authors: Donna M McDonald-McGinn, MS, CGC Beverly S Emanuel, PhD Elaine H Zackai, MD, FACMG About the Authors Initial Posting: 23 September 1999 Last Update 23 July 2003 Summary Disease characteristics. Individuals with the 22q11.2 deletion syndrome (del 22q11.2) have a range of findings, including congenital heart disease (74% of patients), particularly conotruncal malformations (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and truncus arteriosus); palatal abnormalities (69%), particularly velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate; characteristic facial features (present in the majority of Caucasian individuals); and learning difficulties (70-90%). Seventy-seven percent of patients have an immune deficiency regardless of their clinical presentation. Additional findings include: hypocalcemia (50%), significant feeding problems (30%), renal anomalies (37%), hearing loss (both conductive and sensorineural), laryngotracheoesophageal anomalies, growth hormone deficiency, autoimmune disorders, seizures (without hypocalcemia), and skeletal abnormalities. Diagnosis/testing.

29. Velo Cardio VeloCardio-Facial Syndrome, also known as VCFS and shprintzen syndrome, isa disorder that may result in a myriad of symptoms, including cleft palate http://www.oswego.org/staff/MCROSBY/web/Velo-cardio-facial Syndrome-Shprintzen S

Velo -Cardio-Facial Syndrome , also known as VCFS and Shprintzen Syndrome , is a disorder that may result in a myriad of symptoms, including cleft palate, congenital heart defects, and learning disabilities. Articulation and Language Disorders commonly occur as a result of VCFS Take a look at these websites for more information: SUNY Upstate Medical University: Department of Otolaryngology and Communication Sciences EPEC - Educating Parents of Extra-special Children - Shprintzen Syndrome ... Back to Home Page

30. VCFS Velocardiofacial Syndrome, also known as VCFS or as shprintzen syndrome,is the most common syndrome associated with cleft palate. 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?

31. Disease Directory : Genetic Disorders : Velo-Cardio-Facial Syndrome Syndrome. Founded 1996.Support and resource network for families copingwith velocardio-facial syndrome (aka shprintzen syndrome). http://www.diseasedirectory.net/Genetic_Disorders/Velo-Cardio-Facial_Syndrome/de

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Velo-Cardio-Facial Syndrome 1895: High rates of schizophrenia in velo-cardio-facial syndrome. - Program Nr: 1895 High rates of schizophrenia in velo-cardio-facial syndrome. KC Murphy 1,2 , LA Jones 1 , MJ Owen 1 . 1) Department Conditions and Diseases - Velo-Cardio-Facial Syndrome Top Links - Velo-Cardio-Facial Syndrome Web Site Links. Velo-Cardio-Facial Syndrome (VCFS) - Overview of VCFS describing condition, causes and red flags. Geometry.Net - Health_Conditions: Velo-cardio-facial Syndrome - http://www.familyvillage.wisc.edu/lib_vcfs.htm. Velo-Cardio-Facial Syndrome. Velo-Cardio-Facial Syndrome (VCFS) and DiGeorge Syndrome On-Line Discussion Groups. Has your child been diagnosed with Velo Cardio Facial Syndrome Di ... - Page 1. Has your child been diagnosed with Velo Cardio Facial Syndrome Di George Syndrome or a 22q11 deletion? If you would like Health Library - Dubowitz Syndrome - The synonyms of this disorder with a general discussion and further resources. Health Library - Velo-Cardio-Facial Syndrome - Velo-Cardio-Facial Syndrome. Founded 1996.Support and resource network for families coping with velo-cardio-facial syndrome (aka Shprintzen syndrome).

32. Genetic Disorders And Syndromes 22q11 Group information and support for Velo-Cardio-Facial Syndrome (VCFS) ,Di George Syndrome and shprintzen syndrome Aarskog Syndrome Support Group http://www.healthcentre.org.uk/hc/pages/inherited.htm

Genetic Disorders and Syndromes see also: inborn errors of metabolism national local international UK National Resources 22q11 Group - information and support for Velo-Cardio-Facial Syndrome (VCFS) , Di George Syndrome and Shprintzen Syndrome Aarskog Syndrome Support Group - information Alpha-1 Support - support for people suffering from alpha-1 antitrypsin deficiency Androgen Insensitivity Syndrome Support Group - information and support Annals of Human Genetics - journal British Society for Human Genetics - information about the society and its services Brittle Bone Society - help, advice and information to people affected by oteogenesis imperfecta BUBL Information Service - genetics resources, Bath University Children's Mitochondrial Disease Network Cri Du Chat Syndrome Support Group - information and links Cystic Fibrosis Medicine - educational web site for patients and medical professionals Cystic Fibrosis Resource Centre - information for cystic fibrosis patients, parents, doctors and other carers from Solvay Healthcare Cystic Fibrosis Trust - national charity dealing with cystic fibrosis Diagnostics - National electronic Library for Health Down's Syndrome Association - support parents and carers Down's Syndrome Research Foundation - parents helping parents to get research for their children DownsNet - information and links from the Down Syndrome Educational Trust - parents helping parents to get research for their children

33. Velocardiofacial Syndrome,vcfs,vcf Syndrome,Velocardiofacial Syndrome,vcfs,vcf S Velocardiofacial Syndrome,vcfs,vcf syndrome,Velocardiofacial Syndrome,vcfs,vcfsyndrome,shprintzen syndrome, DiGeorge syndrome,Craniofacial syndrome http://www.icomm.ca/geneinfo/vcfs.htm

Velocardiofacial Syndrome,vcfs,vcf syndrome,Velocardiofacial Syndrome,vcfs,vcf syndrome,Shprintzen syndrome, DiGeorge syndrome,Craniofacial syndrome,Conotruncal Anomaly Unusual Face Syndrome,22q11 deletion For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Velocardiofacial Syndrome also known as: vcfs vcf syndrome Shprintzen syndrome DiGeorge syndrome Craniofacial syndrome Conotruncal Anomaly Unusual Face Syndrome 22q11 deletion (as defined at http://www.vcfs.net/ Velo-cardio-facial syndrome (VCFS), also known Shprintzen Syndrome, and sometimes presenting as the DiGeorge Sequence, is known to be 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. (as defined at http://www.nidcd.nih.gov/health/voice/velocario.asp Velocardiofacial Syndrome On this page: What is velocardiofacial syndrome?

34. 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

35. You Ll Find Hundreds Of Files On Cleft Lip, Cleft Palate Here On 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.

36. Www.ddhealthinfo.org - Medical Care Information Also known as shprintzen syndrome, Craniofacial syndrome or Conotruncal Anomaly UnusualFace syndrome, VCFS was recognized in 1978 by Dr. Robert J. Shprintzen http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=5167

37. What Is DiGeorge Syndrome? It is classified along with velocardio-facial syndrome (shprintzen syndrome) andconotruncal anomaly face syndrome as a 22q11 microdeletion and is sometimes http://nvnv.essortment.com/digeorgesyndrom_ruuh.htm

What is DiGeorge syndrome? DiGeorge syndrome identified as a chromosomal microdeletion. This syndrome is typified by conotruncal congenital heart disease, facial abnormalities and endocrine and immune disorders. What is DiGeorge Syndrome? DiGeorge syndrome is characterized by a few specific cardiac malformations, a sub-set of facial attributes, and certain endocrine and immune anomalies. bodyOffer(20401) The cause of DiGeorge syndrome has been identified as a submicroscopic deletion of chromosome 22 in the DiGeorge chromosomal region. It is classified along with velo-cardio-facial syndrome (Shprintzen syndrome) and conotruncal anomaly face syndrome as a 22q11 microdeletion and is sometimes referred to by the simple name 22q11 syndrome. People with DiGeorge syndrome may have the following congenital heart lesions: tetralogy of Fallot, interrupted aortic arch type B, truncus arteriosus, aberrant left subclavian artery, right infundibular stenosis, or ventricular septal defect. 74% of patients with 22q11 syndrome have conotruncal malformations. 69% of patients are found to have palatal abnormalities including velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate. Some of the facial characteristics of DiGeorge syndrome are bifid uvula, high-arched palate, small mouth and wide set eyes, down-slanting eyes, hooded eyes, long face, malar flatness, cupped low set ears, bulbous nasal tip, and a dimpled or bifurcated nasal tip. Not all people with a 22q11 microdeletion display all, or indeed, any, of these characteristics.

38. 22Q11 DELETION SYNDROMES: Contact A Family - For Families With Disabled Children 22q11 Deletions DiGeorge syndrome (DGS); velocardio-facial syndrome(VCFS); shprintzen syndrome; CATCH 22. The chromosome 22q11 http://www.cafamily.org.uk/Direct/22.html

printer friendly 22Q11 DELETION SYNDROMES home more about us in your area conditions information ... how you can help search this site 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.

39. Index S: Contact A Family - For Families With Disabled Children: Information On Chain AcylCoA Dehydrogenase (SCAD) deficiency see Fatty Acid Oxidation DisordersShort Stature see Restricted Growth shprintzen syndrome see 22q11 Deletion http://www.cafamily.org.uk/Idx/s.html

printer friendly home more about us in your area ... how you can help search this site Please use the Index below to access the condition on which you require information. If you do not find what you want in the Index then try our search facility in the navigator on the left. Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. SCAD see Fatty Acid Oxidation Disorders SCH see Lissencephaly SCID see Primary Immunodeficiencies SED see Restricted Growth SIDS see Cot Death SLE see Lupus SLOS see Smith-Lemli-Opitz syndrome SMA see Spinal Muscular Atrophy SOD see Septo-Optic Dysplasia SSPE see Subacute-Sclerosing Panencephalitis S-adenosylhomocysteine hydolase deficiency see Saccade Initiation Failure see Congenital Ocular Motor Apraxia Sacral Agenesis Saethre-Chotzen see Craniofacial Conditions Sagital Craniosynostosis see Craniofacial Conditions Salaam attacks see West syndrome Sandhoff's disease see Metabolic diseases Sanfilippo see Mucopolysaccharide diseases and associated diseases Santavuori disease see Batten disease Santavuori-Haltia disease (infantile) see Batten disease Sarcoidosis Scapulohumeral Dystrophy see

40. Shprintzen-Goldberg Syndrome Case Report A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation(Goldbergshprintzen syndrome). J Med Genet. 1999;36485–489. http://cpcj.allenpress.com/cpcjonline/?request=get-document&doi=10.1597/1545-156

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