61. Cleft And Craniofacial Velocardiofacial Syndrome The name velocardiofacial syndrome refers to some areas of the body that can be affected. Velo refers to the palate (roof of the mouth). http://www.ucdmc.ucdavis.edu/children/services/cleft/health/anomalies/velocardio

For Health Consumers For Health Professionals Find a Clinic Find a Doctor ... Employment Velocardiofacial syndrome The name velocardiofacial syndrome refers to some areas of the body that can be affected. Velo refers to the palate (roof of the mouth). Babies with VCF are at an increased risk of being born with a cleft palate. The palate may also have poor muscle movement. Both these features put a child at risk for speech problems. Cardio refers to the heart. Babies with VCF are at an increased risk for being born with a Heart defect. Facial refers to the common facial features. There may be minor differences in facial features like the eyes, ears and nose that will probably not be apparent except to someone experienced with the syndrome. The name DiGeorge syndrome may be used when a person has all of the following absent/dysfunctional thymus leading to lower immune response (more frequent infections) and a heart defect. It was once thought that DiGeorge and VCF were completely separate syndromes it is now known that many people with DiGeorge and most people with VCF have a 22q11.2 deletion. Will my child have all these features?

62. Velo Cardio Facial Syndrome Foundation (Qld) Inc. VCFS Foundation (Qld) Inc was established to help and support groups of VCFS sufferers and their families, with the view to social contact, http://www.vcfs.com.au/

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63. Velocardiofacial Syndrome Velocardiofacial syndrome, (VCFS), a rare genetic disorder, is characterized by abnormalities of the 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 XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library 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 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 learning disabilities. Some of those affected also develop psychiatric problems. 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.

64. Velocardiofacial Syndrome Definition - Medical Dictionary Definitions Of Popular Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=5972

65. Velocardiofacial Syndrome Velocardiofacial syndrome. What is velocardiofacial syndrome? Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty http://www.healthieryou.com/velcard.html

Select One Contact CME? Order? Register? Place an Ad? Print Pages? More... ADD/ADHD Alcoholism Alzheimer's Anorexia Anxiety Bipolar Disorder Borderline Bulimia Children Compulsive Dementia Depression Dissociation Drug Abuse Eating Disorders Fear Forgetfulness Hyperactivity Mania Manic-Dep Mood Disorder Narcissistic Neurology Obsessive OCD Panic Paraphilias Phobia Personality Psychosis PTSD Schizophrenia Seasonal Mood Sexual Issues Social Phobia Suicidal Tic Disorders Violence 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.

66. Velocardiofacial Syndrome Velocardiofacial syndrome, (VCFS), a rare genetic disorder, is characterized by abnormalities of the head and facial (craniofacial) area, heart defects that 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.

67. Clinical Trial: Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study Velocardiofacial syndrome, also known as 22q11.2 syndrome or DiGeorge syndrome, 22q11.2 (DiGeorge MIM 188400, Velocardiofacial MIM 192430) syndrome is a http://www.clinicaltrials.gov/ct/show/NCT00105274

Home Search Browse Resources ... About Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) February 18, 2005 Sponsored by: National Institute of Mental Health (NIMH) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose Velocardiofacial syndrome, also known as 22q11.2 syndrome or DiGeorge syndrome, has been associated with many features such as a cleft palate, heart defects, and learning, speech and feeding problems. It is caused by the absence of a number of genes on chromosome 22, but the mechanism by which this inborn abnormality causes the clinical problems is not known. In this study by the National Institute of Mental Health and the Office of Rare Diseases, we are recruiting participants with 22q11.2 syndrome to come for a three-day stay to our main campus in Bethesda, MD, to participate in a study in which we will investigate the genetic makeup of their cells together with several studies of brain function with advanced research imaging. The goal of this study is to understand how the genes missing in 22q11.2 syndrome are related to the increased occurrence of psychiatric problems, such as psychosis, in this syndrome. Participants must be 18-50 years of age, have some high school education and not currently be taking antipsychotic medication. Travel costs to Bethesda for participants and an accompanying person will be paid, and participants are reimbursed for their time in participating in the study. A blood draw is required. All research procedures have been designated as "minimal risk" procedures.

68. Clinical Trial: Immunologic Evaluation In Patients With DiGeorge Syndrome Or Vel I. Determine the pattern of immunologic reconstitution in patients with Tcell compromise due to DiGeorge syndrome or velocardiofacial syndrome. http://www.clinicaltrials.gov/ct/show/NCT00005102

Home Search Browse Resources ... About Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome This study is currently recruiting patients. Verified by National Center for Research Resources (NCRR) December 2003 Sponsors and Collaborators: National Center for Research Resources (NCRR) Children's Hospital of Philadelphia Information provided by: National Center for Research Resources (NCRR) ClinicalTrials.gov Identifier: Purpose OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints. III. Determine presence of sustained immunologic compromise in older patients. Condition DiGeorge Syndrome Shprintzen syndrome Chromosome Abnormalities Abnormalities, Multiple Conotruncal Cardiac Defects MedlinePlus related topics: Birth Defects Congenital Heart Disease Immune System and Disorders Genetics Home Reference related topics: 22q11.2 deletion syndrome

69. VCF - Velocardiofacial Syndrome The following synonyms exist for gene VCF (velocardiofacial syndrome) CATCH22. Intelligence and psychosocial adjustment in velocardiofacial syndrome a http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/93045.html

The gene encoding a cationic amino acid transporter ( ) maps to the region deleted in the velocardiofacial syndrome Abstract-1500148 is a gene deleted in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) which has homologs in species as distant as Caenorhabditis elegans and Drosophila . The function of is unknown, and the predicted protein sequence does not contain motifs which suggest a particular role in the developmental defects present in DGS and VCFS. Abstract-1399998 Velocardiofacial syndrome (VCFS) and the DiGeorge sequence ( DGS ) are caused by 22q11.2 deletions. Abstract-916588 Intelligence and psychosocial adjustment in velocardiofacial syndrome : a study of 37 children and adolescents with VCFS Abstract-1107642 Nearly all patients with DiGeorge sequence ( DGS ) and approximately 60% of patients with velocardiofacial syndrome exhibit the deletion. Abstract-1055862 The human HIRA protein is encoded from a region of chromosome 22q that is critical for the DiGeorge syndrome and the velocardiofacial syndrome Abstract-8790604 During childhood

70. Velocardiofacial Syndrome - General Practice Notebook Velocardiofacial syndrome is a rare syndrome with the following features. characteristic facies. squared nose; small nostrils; small mouth http://www.gpnotebook.co.uk/cache/-1154154416.htm

velocardiofacial syndrome Velocardiofacial syndrome is a rare syndrome with the following features: characteristic facies: squared nose small nostrils small mouth cardiac defects submucous cleft palate hypodynamic pharynx Attempted correction of velopharyngeal insufficiency surgically may be complicated by medially placed internal carotid arteries. These interfere with the siting of pharyngoplasty flaps. Click here for more information...

71. Velocardiofacial Syndrome,vcfs,vcf Syndrome,Velocardiofacial Velocardiofacial syndrome,vcfs,vcf syndrome,Velocardiofacial syndrome,vcfs,vcf syndrome,Shprintzen syndrome, DiGeorge syndrome,Craniofacial syndrome http://www.icomm.ca/geneinfo/vcfs.htm

72. Cleft Lip And Palate And Velocardiofacial Syndrome [from CLAPA Ireland] Velocardiofacial syndrome is the syndrome most commonly associated with a cleft palate. A cleft lip may also occur. More http://www.cleft.ie/related/vcfs.htm

You are here: Home Page Related Syndromes Velocardiofacial Syndrome Velocardiofacial Syndrome VCFS is also known as Shprintzen syndrome after Dr. Robert Shprintzen who first described it in 1978. Though the two terms are often used interchangeably, DiGeorge sequence and VCFS are clinically distinct but overlapping conditions. The cause who are diagnosed as having VCFS. Associated conditions Aside from cleft palate, there are up to 184 other anomalies commonly associated with VCFS, including heart defects, unique facial characteristics (elongated face, almond-shaped eyes, small ears, wide nose), speech and feeding problems, middle ear infections, and learning difficulties. Not all anomalies are present in the child, nor is any one anomaly present in all cases. The features with which the child is born do not get progressively worse over time. Inherited?

73. DiGeorge Sequence/Velocardiofacial Syndrome DiGeorge Sequence/Velocardiofacial syndrome (Catch22; Hypoplasia Of Thymus and Parathyroids; Third and Fourth Pharyngeal Pouch syndrome) http://www.bdid.com/digeorge.htm

HOME DiGeorge Sequence/Velocardiofacial Syndrome (Catch22; Hypoplasia Of Thymus and Parathyroids; Third and Fourth Pharyngeal Pouch Syndrome) DIGEORGE SYNDROME Emily has DiGeorge DiGeorge Anomaly Velo-Cardio-Facial Syndrome ... HOME

74. Velocardiofacial Syndrome The Essentials on Velocardiofacial syndrome Guidelines. Overview FederallyFunded Research on Velocardiofacial syndrome. E-Journals PubMed Central 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?

75. Di George/Velocardiofacial Syndrome - FISH Analysis DiGeorge/Velocardiofacial syndrome, Sphrintzen syndrome. The Kleberg Cytogenetics Laboratory offers fluorescence in situ hybridization (FISH)based assays http://www.bcmgeneticlabs.org/tests/cyto/digeorgevelocardiofacial.html

DIGEORGE/VELOCARDIOFACIAL SYNDROME FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers fluorescence in situ hybridization (FISH)-based assays for identifying the deletions of 22q associated with DiGeorge syndrome, velocardiofacial syndrome (VCFS), Shprintzen syndrome and isolated conotruncal cardiac defects, and deletions on 10p associated with the DiGeorge Syndrome II locus. The laboratory tests for both critical regions (10p13p14 and 22q11.2) using a dual-probe FISH assay. Clinical Features: The phenotypic features of DiGeorge syndrome consist of thymic aplasia or hypoplasia, hypocalcemia and conotruncal cardiac defects. Many patients die of cardiac complications or infections due to poor immunity. Velocardiofacial (Shprintzen) syndrome often presents with overt or submucous cleft palate, conotruncal defects, hypotonia, dysmorphic facies, developmental delay, small stature and velopharyngeal incompetence. Because of significant overlap of both syndromes, some clinicians refer to this syndrome as 22q11 deletion syndrome. There is significant inter- and intrafamilial clinical variability due to deletion of 22q11. A second deletion of 10p13p14 (DiGeorge Syndrome II) has been associated with similar clinical features.

76. Velocardiofacial Syndrome - Talk Medical Humanfriendly medical definition of Velocardiofacial syndrome. http://www.talkmedical.com/medical-dictionary/15126/Velocardiofacial-Syndrome

Home Medications Medical Dictionary Talk Medical ... Medical Dictionary Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Velocardiofacial Syndrome Velocardiofacial syndrome: A congenital malformation syndrome characterized by cleft palate, heart defects, abnormal facial structure, and learning problems. Less frequent features include short stature, small-than-normal head (microcephaly), mental retardation, minor ear anomalies, slender hands and digits, and inguinal hernia. Persons with the syndrome tend to have mood swings like those seen in bipolar disorder. The cause of the velocardiofacial (VCF) syndrome is a microdeletion in chromosome band 22q11.2, as in the DiGeorge syndrome. The VCF and DiGeorge syndromes are different clinical expressions of essentially the same chromosome defect. Treatment is by surgery to correct the physical defects, and medication, therapy, and special education to assist with the cognitive and neurological effects. Also known as Shprintzen syndrome. See also bipolar disorders, DiGeorge syndrome.

77. Ear, Nose & Throat Journal: Avoiding Perils And Pitfalls In Velocardiofacial Syn Velocardiofacial syndrome is classically characterized by clefting of the We also review the literature on velocardiofacial syndrome, which is not very http://www.findarticles.com/p/articles/mi_m0BUM/is_1_82/ai_97754545

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Jan 2003 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Avoiding perils and pitfalls in velocardiofacial syndrome: an otolaryngologist's perspective - Original Article Jan, 2003 by Benjamin B. Maj. Cable Eric A. Lt.Col. Mair Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. Abstract Velocardiofacial syndrome is classically characterized by clefting of the secondary palate, cardiac defects, learning disabilities, and facial dysmorphism. Knowledge of this syndrome is of significant importance to otolaryngologists because a failure to recognize it prior to head and neck surgery can result in serious iatrogenic injury, including velopalatal insufficiency and damage to anomalous carotid arteries. To illustrate these issues, we describe the case of a 5-year-old boy with velocardiofacial syndrome. We also review the literature on velocardiofacial syndrome, which is not very extensive, perhaps because it is often difficult to recognize.

78. Velocardiofacial Syndrome - Health Minutes 31/10/2002 The name for this is VCFS, standing for Velocardiofacial syndrome and it’s often missed because none of the defects may be terribly severe and the children http://www.abc.net.au/health/minutes/stories/s715414.htm

ABC Home Radio Television News ... Health Minutes Home Velocardiofacial Syndrome 31 October 2002 Just when you least expect it, someone’s found a new syndrome in children. Well actually it was first discovered about 25 years ago but many doctors - and certainly parents - are still to hear about it. Yet it’s almost as common as Down’s syndrome. These children are often late to speak, and when they do it’s with very nasal tones, due to a hidden cleft palate. They can have heart defects, mild intellectual delay and as teenagers may develop serious mental illness, a bit like schizophrenia. The name for this is VCFS, standing for Velocardiofacial Syndrome and it’s often missed because none of the defects may be terribly severe and the children appear fairly normal apart from a longish looking face. VCFS is caused by a defect on chromosome number 22 affecting about 25 genes.The diagnosis is easy from a blood or tissue test but the doctor’s got to suspect VCFS first. For many parents it gives a welcome name to problems they’ve been having trouble pinning down; it gives schools guidance on how to help the child and it allows doctors to search for treatable abnormalities such as in the heart. There’s more information on the Health Minutes NewsRadio website.

79. Health Report - 28/10/2002: Velo Cardio Facial Syndrome - VCFS VCFS is a common but mysterious genetic disorder Its caused by the deletion of genetic material from the long arm of the chromosome 22 and is more common http://www.abc.net.au/rn/talks/8.30/helthrpt/stories/s713387.htm

Health Matters All in the Mind The Buzz Earthbeat ... Quantum Velo Cardio Facial Syndrome - VCFS Broadcast Monday 28 October 2002 with Norman Swan Summary: VCFS is a common but mysterious genetic disorder. It's caused by the deletion of genetic material from the long arm of the chromosome 22 and is more common than Downs Syndrome. Transcript: Later this week in Queensland, a major international conference is taking place on a condition that many doctors may have never heard of. Yet it’s almost as common as Down’s syndrome. It’s just less obvious to the casual observer. Stephen Russell: The first time we thought there was something wrong with Amy was when she was a very young baby. Norman Swan: Stephen Russell is the parent of a child with this problem. Stephen Russell: She had difficulty feeding, she had nasal regurgitation of milk, whether taken from the breast or a bottle. The assistance we got was not tremendously helpful. We were treating her for reflux, which she didn’t have. It was indicative, as we later discovered, of the fact that she had a sub-mucous cleft palate and was unable to make a vacuum in her mouth cavity. Norman Swan: How long did it take to make that diagnosis?

80. Velocardiofacial Syndrome Complete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume V 2/VELOCARDIOFACIAL

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