41. Velo-Cardio-Facial Syndrome chromosome 22q11.2 deletion, shprintzen syndrome, DiGeorge syndrome).VeloCardio-Facial Syndrome (VCFS) Educational Foundation, Inc. (also, 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

42. VCFS VCFS also known as the shprintzen syndrome, DiGeorge Sequence and, Includes shprintzen syndrome, DiGeorge Syndrome (DGS), Velocardiofacial Syndrome http://www.vcfs.net/22q11/links.htm

Links To Remote Sites Contents The VCFS Educational Foundation UK Health Centre 22q11 Deletion Syndrome Government SEN Site ... http://www.vcfsef.org/ "...... the Official Web Site of the Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation. 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......." The contact at the Foundation is Kelvin P. Ringold

43. VCFS What is a syndrome ? Your child may have been diagnosed as having VelaCardio-FacialSyndrome, Di George Syndrome or shprintzen syndrome, depending upon http://www.vcfs.net/22q11/syndrome.htm

A Brief Overview of Some Affected Areas To view this page, you may use the links to visit each section, or merely scroll down the page reading them in order. Printing this page will print all the topics listed here, and can provide a useful reference for the future. To return here, click on any section heading. Palate Calcium Development Hearing/Ears ... INTRODUCTION This is a brief introduction into the way in which a deletion on the 22nd chromosome may affect your child. If you would like more detailed information, please contact the 22q11 Group. It has been written by parents and is based upon personal experience and research. What is a syndrome ? Your child may have been diagnosed as having Vela-Cardio-Facial Syndrome, Di George Syndrome or Shprintzen Syndrome, depending upon where and by whom he/she was diagnosed. In the case of all of the above diagnoses the cause is probably a genetic disorder involving a deletion of part of chromosome 22. In genetics the term syndrome means the association of multiple anomalies often present at birth which are caused by a single factor. In this case a deletion of the 22nd chromosome. How will my child be affected ?

44. Cleft Advocate - Syndromes shprintzen syndrome (See VeloCardioFacial Syndrome). SmithLemli-Opitz Syndrome (SLOS) VeloCardioFacial Syndrome (shprintzen syndrome) http://www.cleftadvocate.org/syndromes.html

@import url(http://www.homestead.com/~media/elements/Text/font_styles.css); Amniotic Band Syndrome Amniotic Band Syndrome Information and personal stories ABS Support Network A Yahoo group The ClubFoot Club About ABS and its many manifestations, including cleft lip and palate Apert Syndrome A Guide to Understanding Apert Syndrome From the Children's Craniofacial Association Aperts Overview Discusses similarities between Aperts and Crouzons Teeter's Page www.apert.org The Apert Listserv Correspond with other Aperts families Arhinia Simply Kristi An incredible website! Beckwith-Wiedemann Beckwith-Wiedemann Syndrome From the Pediatric Database (refers to midface hypoplasia) The Beckwith-Wiedemann Support Group Information and support includes on-line support group Beckwith-Wiedemann Group UK Birthmarks/Hemangiomas/Vascular Malformations Birthmarks.com Frequently asked questions, treatment resources and more National Organization of Vascular Anomalies Aiding families in the diagnosis and treatment of hemangiomas/vascular malformations My Port Wine Stain Personal stories and links to information on treatment, make-up and more!

45. UNSW Embryology-OMIM DIGEORGE SYNDROME Shprintzen (1994) objected to lumping velocardiofacial syndrome with the DiGeorgeanomaly, In the older child the features overlap shprintzen syndrome http://embryology.med.unsw.edu.au/OMIMfind/endocrine/OMIM-188400.htm

UNSW Embryology DEVELOPMENT OF THE ENDOCRINE SYSTEM Embryology Home Page DIGEORGE SYNDROME Select Entry from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology-Kidney Notes List of OMIM search results *188400 DIGEORGE SYNDROME; DGS Alternative titles; symbols HYPOPLASIA OF THYMUS AND PARATHYROIDS THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED SHPRINTZEN VCF SYNDROME, INCLUDED TAKAO VCF SYNDROME, INCLUDED CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED VELOCARDIOFACIAL SYNDROME, INCLUDED CATCH22, INCLUDED TABLE OF CONTENTS DESCRIPTION NOMENCLATURE CLINICAL FEATURES BIOCHEMICAL FEATURES ... Database Links Gene Map Locus: Note: pressing the symbol will find the citations in MEDLINE whose text most closely matches the text of the preceding OMIM paragraph, using the Entrez MEDLINE neighboring function.

46. DiGeorge Syndrome Dr. Shprintzen named this group of features velocardio-facial syndrome, but thesyndrome was also referred to as shprintzen syndrome. http://www.healthsystem.virginia.edu/uvahealth/peds_diabetes/digeorge.cfm

[ Skip Navigation ] Health System Home For Health Answers Healthcare Professionals ... Advanced Search Health System Search Search for Information People UVa Home Health System News Health System Events (all) Health System Publications ... Making a Gift Topics Adolescent Medicine Allergy/Asthma/Immunology Blood Disorders Burns Cancer Common Injuries/Poison Tips Craniofacial Anomalies Dermatology Diabetes/Endo/Metabolism Eye Care Genitourinary/Kidney High-Risk Newborn High-Risk Pregnancy Infectious Diseases Medical Genetics Mental Health Nervous System Disorders Normal Newborns Oral Health Orthopaedics Pediatric Surgery Respiratory Disorders Terminal Illness in Children Transplantation UVa Health Topics A to Z FIND A DOCTOR Pediatric Endocrinology Pediatric Neurosurgery MAKE AN APPOINTMENT ... CLINICAL TRIALS Search This Site The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. DiGeorge Syndrome What is DiGeorge syndrome?

47. VCFS Velocardiofacial Syndrome, also known as VCFS or as shprintzen syndrome, is themost 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?

48. Genetic Conditions List shprintzen syndrome Simpson Golabi syndrome Sjogren syndrome Shprintzensyndrome (Velo Facial Cardio syndrome). Shy Drager syndrome http://www.agsa-geneticsupport.org.au/conditions_list.html

A-Z LIST OF CONDITIONS REPRESENTED BY AGSA A B C D ... P Q R S T U ... X Y Z -A- Aarskog syndrome Achondroplasia Acid Maltase Deficiency Acoustic Neuroma Acrocallosal syndrome Adams Oliver syndrome Adrenoleukodystrophy Aicardi syndrome Alagille syndrome Albinism Alkaptonuria Alpha l Antitrypsin Deficiency Alpha Manniosidosis Alpha Thalassaemia X-Linked Mental Retardation Alport syndrome Alstroms syndrome Amyotrophic Lateral Sclerosis Androgen Insensitivity Angelman syndrome Aniridia Anticardiolipin AB Type Antiphospholipid syndrome Ankylosing Spondylitis Apert syndrome Aspergers syndrome Ataxia -hereditary [back to top] -B- Baller-Gerold syndrome Bannayan-Riley-Ruvalcaba syndrome Baret-Biedl syndrome Bartter syndrome Batten Disease Beckwith-Wiedemann syndrome Behr syndrome Berardinelli syndrome Bilateral Iris Coloboma Bloom syndrome Blount's Disease Borjeson-Forssman-Lehmann syndrome BPES Brown syndrome [back to top] -C

49. 235730 MOWAT-WILSON SYNDROME They called the condition Goldbergshprintzen syndrome, (1997) referred tothis condition as the Goldberg-shprintzen syndrome, but this is an http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:235730] -e

50. Indian Pediatrics - Editorial Goldbergshprintzen syndrome (MIM 235730) and Mowat-Wilson syndrome. Goldberg-Shprintzensyndrome is probably an autosomal recessive; multiple congenital http://www.indianpediatrics.net/nov2004/nov-1115-1123.htm

Home Past Issue About IP About IAP ... Subscription Review Article Indian Pediatrics 2004;41:1115-1123 The Many Faces of Hirschsprung’s Disease Koumudi Godbole From the Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada. Correspondence to: Dr. Koumudi Godbole, C/o Sanjeevan Hospital, 23, off Karve Road, Pune 411 004, India. Email: mudikou@yahoo.com Abstract Key words: Genetic heterogeneity, Hirsch-sprung’s disease. Hirschsprung’s disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. It was first described by Harald Hirschsprung in 1888, in two unrelated boys who died from chronic severe constipation with abdominal distension resulting in congenital megacolon. HSCR is of particular interest to Geneticists as it is known to be associated with a chromosomal abnormality in 12% of cases and with an additional 18% of cases with other congenital anomalies(1). The aim of this review is to discuss embryo-pathogenesis, clinical features and molecular findings in HSCR. Embryology and pathogenesis: Hscr as a neurocristopathy

51. Plastic And Reconstructive Surgery | Clefts | Velocardiofacial Syndrome Velocardiofacial syndrome (VCFS) also known as shprintzen syndrome, DiGeorgesyndrome or 22q11 Deletion is a complex syndrome generally involving http://www.ucsfhealth.org/childrens/medical_services/plassur/clefts/conditions/v

University of California, San Francisco About UCSF Search Welcome Hospitals and Clinics Appointments Billing ... Other Resources Clefts Velocardiofacial Syndrome Signs and Symptoms Diagnosis Treatment Signs and Symptoms Velocardiofacial syndrome (VCFS) also known as Shprintzen syndrome, DiGeorge syndrome or 22q11 Deletion is a complex syndrome generally involving palatal (roof of the mouth) defects, heart defects, learning disabilities, depression of the immune system and distinct facial features. It has been associated with over 30 different characteristics. The severity of VCFS varies widely, and the syndrome is autosomal dominant, which means that an individual with the syndrome has a one in two chance of passing it on to their child. Last reviewed in June 2003 by health care specialists at UCSF Children's Hospital. Home About the Medical Center Contact Us Jobs Compliance / Hotline University of California ... Site Map

52. Types Of Heart-Related Syndromes shprintzen syndrome (see 22q11.2 deletion syndrome). Williams syndrome. What isWilliams syndrome? Williams syndrome is a rare genetic condition that occurs http://www.aboutkidshealth.ca/clinicalAreas.asp?pageContent=HC-nh2-07a

53. CCDD: Family: Education: Descriptions Of Disorders: Introductory Article Deletion 22q11 syndrome is the preferred name for a condition that features cleft conotruncal anomaly face (CTAF) syndrome and shprintzen syndrome. http://www.hopkinsmedicine.org/craniofacial/Education/DefinedArticle.cfm?Article

54. HeartCenterOnline: Velocardiofacial Sydrome (shprintzen syndrome). Velofacial Hypoplasia (ShprintzenSyndrome) Vena Cava. Venipuncture (Blood Tests) http://heart.healthcentersonline.com/encyclopedia/v.cfm

iv_hideTacoda = true; Patients Professionals Home Register Member Log In ... Increase Type Size Featured Centers Cholesterol Blood Pressure Heart Failure Arrhythmia Coronary Artery Disease Free Newsletter! Medical Encyclopedia - Topics A to Z Welcome to the HeartCenterOnline Medical Encyclopedia Topic list, edited by the HealthCentersOnline Physician Advisory Board. Click a letter to see a list of topics. If you cannot find the term you are looking for, click here to let us know. A B C D ... Z V-Fib (Ventricular Fibrillation) V/Q Scan VAD (Ventricular Assist Device) Vagus Nerve Valve Valve Flap (Leaflet) Valve Insufficiency (Valvular Regurgitation) Valve Leaflet (Leaflet) Valvoplasty (Heart Valve Procedures) Valvotomy (Heart Valve Procedures) Valvular Atresia Valvular Endocarditis (Endocarditis) Valvular Function Valvular Heart Disease Valvular Regurgitation ... Valvular Stenosis Valvulotomy (Heart Valve Procedures) Variant Angina Varicose Ulcer (Varicose Veins) Varicose Veins Vascular Vascular Disease Vascular Hemostasis Device (Hemostatic Device) Vascular Sealing Device (Hemostatic Device) Vascular Thoracic Outlet Syndrome Vascular TOS (Vascular Thoracic Outlet Syndrome) Vasculature Vasculitis Vasoconstrictor ... Vasospasm Vasovagal Syncope (Syncope) VCF (Shprintzen Syndrome) VCFS (Shprintzen Syndrome) VCG (Vectorcardiogram) Vectorcardiogram Vegetarian Recipes Vein Vein Graft (Bypass Surgery) Vein Harvesting Vein Inflammation (Thrombophlebitis) Vein Stripping Velocardiofacial Sydrome (Shprintzen Syndrome) Velofacial Hypoplasia (Shprintzen Syndrome) Vena Cava Venipuncture

55. New Page 1 VCFS / shprintzen syndrome / Di George Syndrome. When a child’s health problemsare. puzzling .. A missing piece of genetic http://www.vcfsfa.org.au/vcfs.htm

vcf VELO CARDIO FACIAL SYNDROME FOUNDATION OF AUSTRALIA Incorporated - INC 9875404 Families and Professionals caring for people with VCFS / Shprintzen Syndrome / Di George Syndrome When a child’s health problems are puzzling .. A missing piece of genetic material on chromosome 22 may be the clue. This deletion is associated with : Velo-Cardio-Facial Syndrome Shprintzen Syndrome Cronotruncal Anomaly Unusual Face Syndrome Catch 22 Syndrome DiGeorge Sequence Home What is VCFS? What is VCFSFA? Links ... Calendar

56. 22q11.2 Deletion Syndrome VCFS, also called shprintzen syndrome, was originally described as the combinationof velopharyngeal incompetence (VPI), congenital heart disease (usually a 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 individuals), 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 individuals 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.

57. Velocardiofacial (22q11.2 Deletion) Syndrome | Craniofacial Center | Children's Velocardiofacial syndrome was recognized by Dr. Robert J. Shprintzen of the Center Velocardiofacial syndrome may also be known as shprintzen syndrome, http://craniofacial.seattlechildrens.org/conditions/velocar.asp

@import url(/assets/styles/main.css); Skip Navigation Search: Craniofacial Home About Us Our Services Conditions Treated ... Other Rare Conditions Shortcuts E-mail This Page Velocardiofacial Syndrome (22q11.2 deletion syndrome) Related Items Glossary Contact Information What is velocardiofacial syndrome or 22q11.2 syndrome? How much experience do you have treating 22q11.2 deletion syndrome? ... Who should I call if I have questions about 22q11.2 deletion syndrome? What is velocardiofacial syndrome or 22q11.2 deletion syndrome? Velocardiofacial syndrome is a genetic disorder linked with more than 30 different identifying features. The name velocardiofacial syndrome comes from the Latin term velum (palate), cardia (heart) and facies (having to do with the face). A syndrome is a disease or disorder that has more than one identifying feature or symptom. The most common features of velocardiofacial syndrome are cleft palate (an opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems. Not all of these identifying features are found in every child born with velocardiofacial syndrome. Though the gene or genes responsible have not been identified, a small part of chromosome 22, known as 22q11.2, is missing in the majority of people with velocardiofacial syndrome.

58. Blackwell Synergy - Cookie Absent Goldberg shprintzen syndrome is indeed another clinical entity and Especially,the facial features in Goldberg -shprintzen syndrome appear to be http://www.blackwell-synergy.com/doi/abs/10.1111/j.1399-0004.2004.00319.x

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