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. VCFS Educational Foundation, Inc Main Page VeloCardio-Facial. Syndrome. Educational Foundation, Incorporated. Site Updated May 7, 2004 VCFS also known as the shprintzen syndrome, DiGeorge Sequence and, regrettably, Catch 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.

3. SUNY Upstate Medical University: Department Of Otolaryngology And Communication Commonly known as shprintzen syndrome, VCFS is a genetic condition that impairs almost every of 180 anomalies are associated with shprintzen syndrome. The problems first appear 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.

4. 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?

5. Shprintzen Syndrome - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionary AZList shprintzen syndrome. Advanced Search. http://www.medterms.com/script/main/art.asp?articlekey=5486

6. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: and Abnormalities at or before Birth shprintzen syndrome Syndrome or Velocardiofacial Syndrome. Conditions DiGeorge Syndrome; shprintzen syndrome; Chromosome Abnormalities http://clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/hier/BC1

7. Bbc.co.uk - Health - Conditions A-Z Goldberg Shprintzen Syndrome A guide to Goldberg shprintzen syndrome, facts about the condition and whereto go for support. Goldberg shprintzen syndrome By Dr Trisha Macnair. http://www.bbc.co.uk/health/conditions/goldberg.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index THURSDAY 3rd June 2004 Text only BBC Homepage Health Home Lifestyle Home ... Conditions QUICK GUIDE A-Z Children's Ailments IN-DEPTH Addictions Allergies Arthritis Asthma ... Help Like this page? Send it to a friend! A-Z Illnesses and Conditions Goldberg Shprintzen Syndrome By Dr Trisha Macnair Goldberg Shprintzen Syndrome is an inherited condition caused by the deletion of a very small part of the DNA in the long arm of chromosome 22. It is also known as velocardiofacial syndrome or VCFS. There appear to be a whole spectrum of conditions resulting from mutations in this area of chromosome 22, ranging from deletions which cause no obvious health problems to severe disruption of normal development (for example in a condition known as DiGeorge syndrome). Over 180 different abnormalities have been described in the syndrome - each affected person will have some or many of these features but to varying degrees - some will be severely affected and others more mildly. A few people appear to be completely unaffected. Most common are behavioural features including learning disabilities, psychiatric illness in adolescents and adults (e.g. bipolar disorder, schizophrenia), attention deficit disorder, and a variety of other developmental disorders.

8. Shprintzen Syndrome Browse entry words starting with A, B, C, D, E, F, G, H, I, J, K, L, M,N, O, P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, shprintzen syndrome,.Print this article, http://www.amershamhealth.com/medcyclopaedia/medical/Volume V 2/SHPRINTZEN SYNDR

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters 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 Contacts GE Healthcare Making Waves

9. Shprintzen Syndrome - Encyclopedia Article About Shprintzen Syndrome. Free Acces encyclopedia article about shprintzen syndrome. shprintzen syndrome in Free onlineEnglish dictionary, thesaurus and encyclopedia. shprintzen syndrome. http://encyclopedia.thefreedictionary.com/Shprintzen syndrome

Dictionaries: General Computing Medical Legal Encyclopedia Shprintzen syndrome Word: Word Starts with Ends with Definition 22 q11 microdeletion syndrome is a birth defect A birth defect is a physical or mental abnormality present at the time a child is born. Birth defects range from minimal, such as birthmarks, and slightly mobility-impairing, such as amelia of the legs, to very serious, such as cerebral palsy, and incompatible with life, such as anencephaly. Many birth defects result from genetic abnormalities. Others can arise from chance problems in fetal development (teratogenesis), which are sometimes caused by prenatal vitamin deficiencies or exposure to mercury and other harmful substances. Click the link for more information. caused by a genetic The word " gene " is shared by many disciplines, including whole organism-based or classical genetics, molecular genetics, evolutionary biology and population genetics. It has multiple uses within each of these contexts, but in the primary sense, genes are material things that parents pass to offspring during reproduction; these things encode information essential for the construction and regulation of polypeptides, proteins and other molecules essential for the growth and functioning of the organism. This sense, which is common to all of the above disciplines, is also the original historical meaning of gene. Click the link for more information.

10. Velo-Cardio-Facial Syndrome Velocardio-facial syndrome (VCFS), also known as shprintzen syndrome, sometimespresenting as the DiGeorge sequence, is caused by a deletion of a small 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

11. Velocardiofacial Syndrome this report. Synonyms shprintzen syndrome, VCF Type; VCF Syndrome.Disorder Subdivisions None. General Discussion Velocardiofacial http://my.webmd.com/hw/health_guide_atoz/nord853.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report 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, VCF Type VCF Syndrome Disorder Subdivisions None General Discussion Resources FACES: The National Craniofacial Association P.O. Box 11082 Chattanooga, TN 37401 Tel: (423)266-1632 Fax: (423)267-3124 Tel: (800)332-2373 Email: faces@faces-cranio.org Internet: http://www.faces-cranio.org

12. Velo-Cardio-Facial Syndrome 25 affiliated groups. Founded 1996. Support and resource network for familiescoping with velocardio-facial syndrome (aka shprintzen syndrome). http://my.webmd.com/hw/health_guide_atoz/shc29vel.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Northeast VCFS Support Group Velo-Cardio-Facial Syndrome Northeast VCFS Support Group National network. 25 affiliated groups. Founded 1996. Support and resource network for families coping with velo-cardio-facial syndrome (aka Shprintzen syndrome). Provides information and referrals, pen pals, literature, conferences, and assistance in starting local groups. Uses a listserv. WRITE: Northeast VCFS Support Group Maureen Anderson 2 Lansing Dr. Salem, NH 03079 CALL: 603-898-6332 (Voice/Fax) E-MAIL: mladja@aol.com VERIFIED: 3/11/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

13. Velocardiofacial Syndrome Synonyms. shprintzen syndrome, VCF Type; VCF Syndrome. Disorder Subdivisions.None. Pp. 24551. VELO-CARDIO-FACIAL SYNDROME (shprintzen syndrome). http://www.bchealthguide.org/kbase/nord/nord853.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord853"; var hwDocTitle="Velocardiofacial Syndrome"; var hwRank="1"; var hwSectionHWID="nord853"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Velocardiofacial Syndrome Important It is possible that the main title of the report 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, VCF Type VCF Syndrome Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: DiGeorge Syndrome Fetal Alcohol Syndrome General Discussion Symptoms The symptoms of Velocardiofacial Syndrome are: 1.Cleft palate - patients with Velocardiofacial Syndrome have a mild form of cleft palate. The lobe in the middle of the back of the soft palate (uvula) is split and there is a thin union of the two halves of the palate in the middle with a mucous covering on the rear portion of the mouth. The muscles under the soft palate do not fuse together and a notch can be felt where the hard and soft palates meet. This notch replaces the back spine of the palate. (For more information on this disorder choose "Cleft Lip and Cleft Palate" as your search term in the Rare Disease Database). 2. Abnormalities of the heart - the wall that separates the right and left chambers of the heart which receive blood and then force it back into the arteries (ventricular septal) does not form properly; there may be right aortic arch abnormalities; and a congenital abnormality in which there is obstruction in the outflow from the right ventricle of the heart to the lungs, with an enlarged right ventricle and a displaced aorta that receives blood from both the right and left ventricles (Tetralogy of Fallot). (For more information on this disorder choose "Tetralogy of Fallot" as your search term in the Rare Disease Database).

14. DiGeorge Syndrome information on this disorder, choose Hypoparathyroidism as your search term inthe Rare Disease Database.) shprintzen syndrome is a rare inherited disorder. http://www.bchealthguide.org/kbase/nord/nord74.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord74"; var hwDocTitle="DiGeorge Syndrome"; var hwRank="1"; var hwSectionHWID="nord74"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. DiGeorge Syndrome Important It is possible that the main title of the report 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 Congenital Absence of the Thymus and Parathyroids DGS Harrington Syndrome Pharyngeal Pouch Syndrome Third and Fourth Pharyngeal Pouch Syndrome Thymic Agenesis Thymic Aplasia, DiGeorge Type Thymic Hypoplasia, DiGeorge Type Thymus, Congenital, Aplasia Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Hypoparathyroidism Shprintzen Syndrome Agammaglobulinemias, Primary Nezelof Syndrome Severe Combined Immunodeficiency Wiskott-Aldrich Syndrome General Discussion DiGeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities that develop because of defects that occur during early fetal development. These defects occur in areas known as the 3rd and 4th pharyngeal pouches, which later develop into the thymus and parathyroid glands. Developmental abnormalities may also occur in the 4th branchial arch.

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

16. Entrez PubMed A, Kushnick T. Eight patients (three sporadic, five from two families) with thevelocardio-facial syndrome (VCFS) or shprintzen syndrome are reported. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

17. Entrez PubMed Goldbergshprintzen syndrome Hirschsprung disease, hypotonia, and ptosisin sibs. Yomo A, Taira T, Kondo I. Department of Pediatrics http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?holding=npg&cmd=Retrieve&db=PubMed

18. Velocardiofacial Syndrome - Quest Diagnostics Patient Health Library this report. Synonyms. shprintzen syndrome, VCF Type; VCF Syndrome.Disorder Subdivisions. None. General Discussion. Velocardiofacial http://www.questdiagnostics.com/kbase/nord/nord853.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord853"; var hwDocTitle="Velocardiofacial Syndrome"; var hwRank="1"; var hwSectionHWID="nord853"; var hwSectionTitle=""; var hwSource="us6.0"; var hwProdCfgSerNo="wsh_html_059_c"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Velocardiofacial Syndrome Important It is possible that the main title of the report 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, VCF Type VCF Syndrome Disorder Subdivisions None General Discussion Resources FACES: The National Craniofacial Association P.O. Box 11082 Chattanooga, TN 37401 Tel: (423)266-1632 Fax: (423)267-3124 Tel: (800)332-2373 Email: faces@faces-cranio.org Internet: http://www.faces-cranio.org National Foundation for Facial Reconstruction 317 East 34th St. New York, NY 10016 Tel: (212)263-6656 Fax: (212)263-7534 Tel: (800)422-3223 Email: nffr@earthlink.net

19. 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.

20. The DRM WebWatcher: Specific Disabilities (Index) Optic Dysplasia (SOD); Shaken Baby Syndrome; shprintzen syndrome (VeloCardio-FacialSyndrome); Sleep Disorders; Sotos Syndrome; Spasmodic http://www.disabilityresources.org/SPECIFIC.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher (Subjects) Specific Disabilities (Index) Updated 1/2002 A B C D ... About/Hint/Link The DRM WebWatcher contains separate pages on the following disabilities and disorders. For other conditions, check out the sites listed on our Rare Disorders page. 22q11 (Velo-Cardio-Facial Syndrome) Agnosia, Visual (Prosopagnosia) Albinism Allergy and Asthma ... Xeroderma Pigmentousm Related Subjects Other Topics (The DRM WebWatcher Complete Index) Rare Disorders Resources in your state (c) 1997-2002 Disability Resources, inc.

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