61. Introduction: Velocardiofacial Syndrome - CureResearch.com Introduction Velocardiofacial syndrome. Contents for Velocardiofacial syndrome Printable Next Basic Summary for Velocardiofacial syndrome http://cureresearch.com/v/velocardiofacial_syndrome/intro.htm

IMPORTANT! Use of this site is subject to our and Navigate Home Contents Diseases Search ... Next Search: Condition Lists By Organ By Class By Prevalence By Deaths ... Full List Current chapter: Velocardiofacial syndrome Next sections Basic Summary for Velocardiofacial syndrome Prevalence and Incidence of Velocardiofacial syndrome Complications of Velocardiofacial syndrome Statistics about Velocardiofacial syndrome Next chapters: Translocation Chromosome Disorders Turner Syndrome Klinefelter syndrome Jacobs syndrome ... Feedback Introduction: Velocardiofacial syndrome Contents for Velocardiofacial syndrome: Basic Summary for Velocardiofacial syndrome Prevalence and Incidence of Velocardiofacial syndrome Complications of Velocardiofacial syndrome Statistics about Velocardiofacial syndrome ... Basic Summary for Velocardiofacial syndrome By using this site you agree to our and . Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our and Book Lists guide to books The Metabolic Typing Diet: Customize Your Diet to Your Own Unique Body Chemistry : People are unique in more ways than we can see. Wolcott believes that tailoring your diet to your body's particular quirksmetabolic typingwill improve digestion, circulation, immunity, energy, and mood. To determine your type, he has you take a 65-question test

62. Velocardiofacial Syndrome FACIAL syndrome (SHPRINTZEN syndrome). R. Domenici et al.; Pediatr Med Chir (SeptOct1984; 6(5)). Pp. 695-97. DI GEORGE ANOMALY AND VELOCARDIOFACIAL 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).

63. EPEC - Educating Parents Of Extra-special Children - Velocardiofacial Syndrome Velocardiofacial syndrome Incidence of Immune Cytopenias. Velo-Cardio-Facialsyndrome. Copyright © 2001-2002, EPEConline.com. All rights reserved. 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?

64. Health And Wellness Dictionary: Velocardiofacial Syndrome Dictionary Contents UV Velocardiofacial syndrome. Health and WellnessDictionary Definition. Velocardiofacial syndrome. Inherited http://geoparent.com/dictionary/Detailed/349.htm

From pre-pregnancy to baby care through parenting... See more from GeoParent! Parenting features GeoParent Local ePregnancy Chef Mom.com Myria - for moms SheKnows directory HolidayNotes webcards search site directory local sites message boards ... main page Search: site directory more search options Dictionary Contents U-V : Velocardiofacial Syndrome Health and Wellness Dictionary: Definition Dictionary Main Search GeoParent Main Page Health articles ... X-Y-Z Velocardiofacial Syndrome Inherited disorder characterized by cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems, and speech and feeding problems. Want more? Click here to search the rest of the GeoParent site for information on Velocardiofacial Syndrome! Search the dictionary Click for more search options Look it up in our health dictionary! Healthy Food for Healthy Kids (book) Directory of Health Articles Directory of all articles About this information: These definitions were provided by the Centers for Disease Control, the National Institutes for Health and other government health agencies. This information is for educational purposes only. If you are concerned about your health or your child's health, please consult your family's health care provider immediately. This information is not a substitute for personal medical attention, diagnosis or treatment. Message boards Pregnancy calendar Baby calendar Health dictionary ... Coloring pages COMMUNITY Newborns 2001 Babies Parenting ideas Toddlers Preschoolers

65. Velocardiofacial Syndrome Velocardiofacial syndrome. What is velocardiofacial syndrome? Whatcauses velocardiofacial syndrome? The cause of VCFS is unknown. http://www.healthieryou.com/velcard.html

Select One Contact CME? Order? Register? Place an Ad? Print Pages? Ask a Colleague? 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 Other characters, Velocardiofacial syndrome,. Print this article, see Shprintzensyndrome. CBH. The Encyclopaedia of Medical Imaging Volume V2. http://www.amershamhealth.com/medcyclopaedia/medical/Volume V 2/VELOCARDIOFACIAL

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 Velocardiofacial syndrome, see Shprintzen syndrome CBH The Encyclopaedia of Medical Imaging Volume V:2 Contacts GE Healthcare Making Waves

67. DiGeorge Sequence/Velocardiofacial Syndrome DIGEORGE syndrome; Emily has DiGeorge; DiGeorge Anomaly; VeloCardio-Facialsyndrome; Velocardiofacial syndrome; DiGeorge syndrome; DiGeorge 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

68. Welcome To The UC Davis Children's Hospital Cleft & Craniofacial Program www.nt.net/~a815/chr22.htm Chromosome 22 Central www.vcfsef.org VeloCardio-Facialsyndrome Educational Foundation Shprintzen RJ Velocardiofacial syndrome. http://www.ucdmc.ucdavis.edu/cleft/craniofacial/guide/about/velocardiofacial.htm

Home Craniofacial Anomalies About Craniofacial Anomalies Team Approach to Care ... Scheduling an Appointment 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 22q11.2 deletion refers to the area of the chromosome 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.

69. Surgical Management Of Velopharyngeal Incompetence In Velocardiofacial Syndrome Journal Vol. 41, No. 2, pp. 124–135. Surgical Management of VelopharyngealIncompetence in Velocardiofacial syndrome. Felicity V http://cpcj.allenpress.com/cpcjonline/?request=get-abstract&doi=10.1597/01-110

70. Velocardiofacial Syndrome Selected medical images OMIM Velocardiofacial syndrome. Structuralbrain abnormalities associated with deletion at chromosome 22q11; http://www.gfmer.ch/Genetic_diseases/Developmental_genetic_diseases/Velocardiofa

Selected medical images OMIM Velocardiofacial syndrome Structural brain abnormalities associated with deletion at chromosome 22q11 Variable clinical phenotypes of velocardiofacial syndrome in a pair of brothers Sources British Journal of Psychiatry Indian Pediatrics Print this page Edited by Aldo Campana, August 13, 2003

71. Velocardiofacial Syndrome - General Practice Notebook velocardiofacial syndrome. Velocardiofacial syndrome is a rare syndromewith the following features characteristic facies squared 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...

72. Velocardiofacial Syndrome - Medical Terms And Definitions By Health Dictionary Science Dictionary. Home Health Care. Legal Dictionary. Prescription DrugData. Hospital Directory. Doc Loan s Advice. Velocardiofacial syndrome http://www.health-dictionary.com/medical-term-details/velocardiofacial-syndrome

AIDS / HIV Alzheimer's Disease Cancer Chronic Fatigue Syndrome ... Surgery Terms Other Resources: Nursing Home Resources Science Dictionary Home Health Care Legal Dictionary ... Doc Loan's Advice document.write(lday + ", " +lmonth + " " + date + ", " + year ) Velocardiofacial syndrome: An inherited disorder characterized by cleft palate, heart defects, a characteristic facial appearance, minor learning problems, and speech and feeding problems. More Medical Terms A B C ... Z Information and definitions of the medical conditions and diseases have been taken from various reliable government publications and we have done our best to verify their accuracy. If you feel any of the definitions are incorrect or needs to be updated please contact us and we will look into it. Contact Health Dictionary - Medical and Disease Terms and Definitions 2002-2004. All right are reserved.

73. Velocardiofacial Syndrome - Deafness And Communication Disorder Terms And Defini Velocardiofacial syndrome Inherited disorder characterized by cleft palate(opening in the roof of the mouth), heart defects, characteristic http://www.health-dictionary.com/deafness_term_details/Velocardiofacial_Syndrome

AIDS / HIV Alzheimer's Disease Cancer Chronic Fatigue Syndrome ... Surgery Terms Other Resources: Nursing Home Resources Science Dictionary Home Health Care Legal Dictionary ... Doc Loan's Advice document.write(lday + ", " +lmonth + " " + date + ", " + year ) Velocardiofacial Syndrome: Inherited disorder characterized by cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems, and speech and feeding problems. More Deafness and Communication Disorder Terms A B C ... W Information and definitions of the medical conditions and diseases have been taken from various reliable government publications and we have done our best to verify their accuracy. If you feel any of the definitions are incorrect or needs to be updated please contact us and we will look into it. Contact Health Dictionary - Medical and Disease Terms and Definitions 2002-2004. All right are reserved.

74. VELOCARDIOFACIAL SYNDROME - Meaning And Definition Of The Word Search Dictionary VELOCARDIOFACIAL syndrome Dictionary Entry andMeaning. Medical Dictionary. Definition an inherited disorder http://www.hyperdictionary.com/medical/velocardiofacial syndrome

English Dictionary Computer Dictionary Thesaurus Dream Dictionary ... Medical Dictionary Search Dictionary: VELOCARDIOFACIAL SYNDROME: Dictionary Entry and Meaning Medical Dictionary Definition: an inherited disorder characterized by cleft palate, heart defects, a characteristic facial appearance, minor learning problems, and speech and feeding problems. HOME ABOUT HYPERDICTIONARY

75. Health Report - 28/10/2002: Velo Cardio Facial Syndrome - VCFS Velo Cardio Facial syndrome VCFS Broadcast Monday 28 October 2002 withNorman Swan. Summary VCFS is a common but mysterious genetic disorder. 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?

76. Health Minutes 31/10/2002 Velocardiofacial Syndrome Velocardiofacial syndrome. 31 October 2002 with Norman Swan Just whenyou least expect it, someone’s found a new syndrome in children. http://www.abc.net.au/health/minutes/stories/s715414.htm

Velocardiofacial Syndrome 31 October 2002 with Norman Swan 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.

77. Velocardiofacial Syndrome - Encyclopedia Article About Velocardiofacial Syndrome DiGeorge syndrome,VeloCardioFacial syndrome,Congenital Absence of DiGeorge syndrome (as defined by the National Organization for Rare Disorders) alsoknown as VeloCardioFacial syndrome Congenital Absence of the Thymus and http://encyclopedia.thefreedictionary.com/Velocardiofacial syndrome

Dictionaries: General Computing Medical Legal Encyclopedia Velocardiofacial 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.

78. Comparative Sequence Analysis In The Velocardiofacial Syndrome Region Comparative Sequence Analysis in the Velocardiofacial syndrome Region. Sequencingof the Velocardiofacial syndrome region and the corresponding mouse region. http://inertia.bs.jhmi.edu/CGAT/Mouse_seq_analysis.html

Comparative Sequence Analysis in the Velocardiofacial Syndrome Region Web supplement for "Comparative Sequence Analysis of 634 kb of the Mouse Chromsome 16 Region of Conserved Synteny with the Human Velocardiofacial Region on Chr 22q11.2" James Lund, Feng Chen, Axin Hua, Bruce Roe, Marcia Budarf, Beverely S. Emanuel, and Roger H. Reeves. submitted to Genomics. Sequencing of the Velocardiofacial syndrome region and the corresponding mouse region Sequencing in the DiGeorge/Velocardiofacial Syndrome region on human Chr 22q11.2 has generated 1.4 Mb of contiguous genomic sequence in the genetically defined critical region. Several additional human BAC and PAC clones from the larger commonly deleted region have also been sequenced. Mouse BAC and PAC clones forming a minimal tiling path across the region corresponding to the critical region in mouse are being sequenced. Sequencing is being performed at the University of Oklahoma Genome Center Mouse Chr 16/Human Chr 22q11.2 sequencing progress Mouse sequence contig analysis summary Contig 1: 98d3, 40o20, and 581i11 (rc)

79. DiGeorge Syndrome Approximately 10 percent of individuals who have the features velocardio-facialsyndrome (VCFS) do not have a deletion in the chromosome 22q11 region. http://www.chw.org/display/PPF/DocID/2228/router.asp

Severe Combined Immunodeficiency (SCID) Common Variable Immunodeficiency (CVID) DiGeorge Syndrome X-linked Agammaglobulinemia ... Immune Deficiencies : DiGeorge Syndrome E-mail this page Print this page DiGeorge Syndrome What is DiGeorge syndrome? 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. The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following: hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels) hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system conotruncal heart defects (i.e., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings)

80. Di George/Velocardiofacial Syndrome - FISH Analysis DIGEORGE/VELOCARDIOFACIAL syndrome FISH ANALYSIS. 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.

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