21. EMedicine - Velocardiofacial Syndrome : Article By Robert Ardinger, Jr, MD Synonyms and related keywords DiGeorge sequence,shprintzen syndrome, 22q11 deletion. http://www.emedicine.com/PED/topic2395.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Cardiology Velocardiofacial Syndrome Last Updated: July 1, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: DiGeorge sequence, Shprintzen syndrome, 22q11 deletion AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert Ardinger, Jr, MD , Associate Professor, Department of Pediatrics, Division of Pediatric Cardiology, University of Kansas Medical Center Coauthor(s): Holly Ardinger, MD , Section Chief, Pediatric Genetics, Clinical Associate Professor, Department of Pediatrics, University of Kansas Medical Center Robert Ardinger, Jr, MD, is a member of the following medical societies: American Academy of Pediatrics , and American College of Cardiology Editor(s): Jeffrey Towbin, MD , Associate Chair of Pediatric/Cardiology, Professor, Departments of Pediatrics, Molecular and Human Genetics, Cardiovascular, Baylor College of Medicine and Texas Children's Hospital; Robert Konop, PharmD

22. Diseases Database Disease, Symptom, Sign, Etc Alphabetical Index : V Diseases Da bromide Vegetarian diet see Vegetarianism Vegetarianism Vegetative state Velocardio-facialsyndrome see shprintzen syndrome Velocardiofacial syndrome see http://www.diseasesdatabase.com/sieve/disease_index_v.asp

Diseases Database [Previous page] [Search] [Index] [Feedback] Diseases Database disease, symptom, sign, etc alphabetical index : V Vaccines Vaccinia VACTERL association see VATER syndrome Vacuum extraction of fetus see Ventouse delivery Vaginal agenesis Vaginal atrophy Vaginal bleed in early pregnancy see First trimester PV bleed Vaginal bleed in second trimester see Second trimester PV bleed Vaginal bleed in third trimester see Third trimester PV bleed Vaginal bleed, pre-pubertal see Prepubertal PV bleed Vaginal bleeding see PV bleeding Vaginal bleeding after menopause see Post-menopausal PV bleed Vaginal bleeding during pregnancy see Haemorrhage of pregnancy Vaginal cancer Vaginal discharge Vaginal foreign body ... Vaginismus Vaginitis see Vulvovaginitis Vagus auricular branch neuralgia see Arnold's nerve cough syndrome Vagus nerve pathology see 10th cranial nerve disorder Valaciclovir see Valacyclovir Valacyclovir Valdecoxib Valethamate ... Valine Valproate see Valproic acid Valproic acid Valrubicin Valsalva manouevre ... Valsartan Valve disease see Cardiac valve disease Valve prosthesis (cardiac) van Bogaert's sclerosing leukoencephalitis see Subacute sclerosing panencephalitis van Bogaert-Hozay syndrome van Bogaert-Nijssen disease see Arylsulphatase A deficiency van Bogaert-Scherer-Epstein syndrome see Cholestanol storage disease van der Woude syndrome Vancomycin Vanishing testes syndrome see Gonadal dysgenesis (male) Vanishing twin syndrome Varadi-Papp syndrome Variant angina see Prinzmetal angina Varicella see Chickenpox Varicella-zoster virus Varicocoele Varicose veins Varicosities

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

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

24. NIDCD Health Information: Velocardiofacial Syndrome VCFS may also be known as shprintzen syndrome, DiGeorge syndrome, Craniofacialsyndrome or Conotruncal Anomaly Unusual Face Syndrome. Top. http://www.nidcd.nih.gov/health/voice/velocario.asp

Home Health Information Voice, Speech, and Language Velocardiofacial Syndrome On this page: What is velocardiofacial syndrome? What causes velocardiofacial syndrome? What are the features of velocardiofacial syndrome? How common is velocardiofacial syndrome? ... Where can I get additional information? 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. Top What causes velocardiofacial syndrome?

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

26. Health Library - Velocardiofacial Syndrome this report. Synonyms. shprintzen syndrome, VCF Type; VCF Syndrome.Disorder Subdivisions. None. General Discussion. Velocardiofacial http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

27. Velo-Cardio-Facial Syndrome link to Genetics Education Center Support Page VeloCardio-Facial Syndrome (22q deletion,chromosome 22q11.2 deletion, shprintzen syndrome, DiGeorge syndrome) http://www.kumc.edu/gec/support/velo.html

Velo-Cardio-Facial Syndrome (22q deletion, chromosome 22q11.2 deletion, Shprintzen syndrome, DiGeorge syndrome) Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc. (also, spanish List of over 175 findings reported with 22qdel international groups Also See: National organizations with information on genetic conditions or birth defects 22q11 Deletion , GeneClinics DiGeorge Syndrome CHARGE syndrome 22q and you newslette r , Children's Hospital of Philadelphia Faces of Sunshine , 22q and You Center, Book, $10.00 US checks or money orders to "Clinical Genetics, Education Fund #27087-275760000 ( not purchase orders or credit card payment), c/o Melissa Tonnesen, MS, The Children’s Hospital of Philadelphia, The 22q and You Center, Main Building, Room 2150, 34th Street and Civic Center Blvd., Philadelphia, PA 19104, e-mail: tonnesen@email.chop.edu DiGeorge Syndrome , NIH, NCBI DiGeorge Anomaly , PEDBASE DiGeorge Syndrome , National Institutes of Health, National Library of Medicine DiGeorge Syndrome , Online Mendelian Inheritance in Man (OMIM) History of the 22q11.2 Deletion

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

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

29. 766 Congenital Heart Disease In Goldberg-Shprintzen Syndrome. Congenital heart disease in Goldbergshprintzen syndrome. MG Bialer, SB Ritz,ME Olson. Findings are suggestive of Goldberg-shprintzen syndrome (GSS). http://www.faseb.org/genetics/ashg99/f766.htm

30. Syndromes Velocardio-facial syndrome (VCFS), also known as shprintzen syndrome, sometimespresenting as the DiGeorge sequence, is caused by a deletion of a small http://www.healthyhearing.com/healthyhearing/newroot/relatedlinks/show.asp?subCa

31. DiGeorge Syndrome - Lucile Packard Children's Hospital Dr. Shprintzen named this group of features velocardio-facial syndrome,but the syndrome was also referred to as shprintzen syndrome. http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/cardiac/digeorge.html

Arrhythmia Service/Electrocardiography (ECG) Laboratory Cardiac Catheterization / Angiography Cardiology Cardiothoracic Surgery ... Packard-based Physician Named Director of Cardiac Surgery for Children's Hospital Oakland Cardiovascular Diseases 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. What is DiGeorge syndrome? 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

32. DiGeorge Syndrome - Lucile Packard Children's Hospital Dr. Shprintzen named this group of features velocardio-facial syndrome,but the syndrome is also referred to as shprintzen syndrome. http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/diabetes/digeorge.html

Diabetes Clinic Endocrinology Endocrinologists Diabetes and Other Endocrine and Metabolic Disorders 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. What is DiGeorge syndrome? 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) cleft lip and/or palate The name DiGeorge syndrome was applied to this group of features.

33. SYNDROMES ASSOCIATED WITH CLEFTING articulation; resonance. Syndromes Associated with Cleft Palateshprintzen syndrome (Velocardio-facial syndrome); Characteristics http://www.ux1.eiu.edu/~cfmah/cleft/syndromes.html

SYNDROMES ASSOCIATED WITH CLEFTING About 1/2 of children with some form of clefting have one or more associated anomalies Syndrome: A group of symptoms regularly occurring together and appear to have a related cause Over 250 known syndromes which include clefting Etiology and Syndromes Environmental factors Genetic factors Multifactorial factors Environmental Factors Utero exposure to drugs / chemical agents Physical agents radiation heat intrauterine constraint abnormal uterine shape multiple births Maternal infections Environmental Factors an agent known to cause a defect or raise the incidence known teratogens ethyl alcohol some anticonvulsant medications Accutane maternal diabetes Genetic Factors Genetic Conditions chromosomal abnormalities single gene (monogenic) abnormalities polygenic abnormalities Multifactorial Inheritance Interaction of genotype environmental factors Syndromes Associated with Cleft Palate Pierre Robin or Robin Sequence Small mandible interferes with descent of the tongue Cleft secondary to embryo’s small mandible Primary Features mandibular hypoplasia (micrognathia) glossoptosis (retrusion of tongue) digital anomalies eye/ear defects developmental deficiencies Syndromes Associated with Cleft Palate Primary features (cont.)

34. DiGeorge Sequence/Velocardiofacial Syndrome Velocardiofacial Syndrome; Velocardiofacial Syndrome; CATCH 22; VeloCardio-FacialSyndrome; Catch 22/DiGeorge Sequence/shprintzen syndrome. HOME 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

35. AD HOC BIBLIO - VOCABULAIRE LETTRE S Compilé Le 13/08/02 shprintzen syndrome Voir aussi DiGeorge http://www.cidg.com/~marienf/k/i/miv1s.htm

S Sacralgies Sacro-iliaque Saddle seat Voir SAFER Test Safety Assessment of Function and the Environment for Rehabilitation Safety Assessment of Function and the Environment for Rehabilitation Safety Risk Scale Safety Risk Scale SAIL SAIL System for Automated Interlibrary Loan Saisir Voir Salivation Hypersalivation Salla, Maladie Salla, Maladie Salmeterol Salmeterol ... Sanfilippo Syndrome Voir aussi Voir aussi Maladies mentales Voir aussi SAPHO Syndrome SAPHO Syndrome Sarcoglycan Sarcoglycan ... Sarcoglycan, Complexe Voir Complexe Sarcoglycan Sarcoglycanopathie Sarcoglycanopathie Sarcome de Kaposi ... Scaffolding Voir SCAI-ST Scan Voir Balayeur Scanner Voir Balaieur Scanning Voir Balayage Schedule for Oral Motor Assessment Schedule for Oral Motor Assessment Voir aussi Image corporelle Scheuermann, Maladie Schilder, Maladie Schilder, Maladie Voir Schmidt's Schema Theory Schmidt's Schema Theory Schneck and Henderson Developmental Grip Scale Schneck and Henderson Developmental Grip Scale ... School Performance Voir Performance scolaire School-Years Screening Test for the Evaluation of Mental Status (SYSTEMS) Schwartz-Jampel Syndrome Schwartz-Jampel Syndrome Sciences Sciences sociales Sciences sociales Scientific publishing Voir Publication scientifique Scintigraphie Scintigraphie Voir Voir aussi Neurones moteurs, Maladie

36. AD HOC BIBLIO - INDEX SUJETS LETTRE S Compilé Le 14/01/03 A toy library home service for developmentally disabled and high risk children .m;shprintzen syndrome Muskuloskeletal abnormalities http://www.cidg.com/~marienf/k/i/mid4s.htm

S The complexities embedded in family-centered care.... [a] The cost of assistive devices for children with mobility limitations.... [a] The effectiveness of traumatic brain injury rehabilitation : a review.... [a] The ethics of gatekeeping in rehabilitation medicine.... [a] The evolution of rehabilitation facilities for children.... [a] The family perspective on managed care.... [a] The family-centred approach to providing services: A parent perspective.... [a] The feasibility of implementing a system to measure rehabilitation outcome in an... [a] The impact of caregiving and role strain on family life: comparison between moth... [a] The impact of managed care on the moral character of rehabilitation institutions... [a] The influence of hospital culture on rehabilitation team functioning in VA hospi... [a] The influence of outcome studies on rehabilitation policy.... [a] The long-term outcome of head injury : implications for service planning.... [a] The measure of processes of care MPOC: A means to assess family-centred behavio... [m] The paradox of changing the service delivery system in the field of rehabilitati...

37. VCFS Velocardiofacial Syndrome, also known as VCFS or as shprintzen syndrome,is the most common syndrome associated with cleft palate. http://www.faces-cranio.org/Disord/Velo.htm

The National Craniofacial Association P. O. Box 11082 * Chattanooga, TN 37401 Velo-cardio-facial Syndrome What is Velo-cardio-facial Syndrome? Velocardiofacial Syndrome, also known as VCFS or as Shprintzen Syndrome, is the most common syndrome associated with cleft palate. Approximately 1 in 2,000-5,000 children are born with VCFS. Characteristics include: a long face with a prominent upper jaw flattening of the cheeks an underdeveloped lower jaw a bluish color below the eyes a prominent nose with narrow nasal passages a long thin upper lip and a down-slanting mouth cleft palate or submucous cleft palate Why did this happen? Velocardiofacial Syndrome is an autosomal dominant condition. Genetic studies of children with this condition show that a microscopic segment on the long arm of chromosome 22 is missing. The genetic test for diagnosis of this condition is called "FISH analysis" and can be performed in many medical centers. It is not because of anything the mother did or did not do during the pregnancy. Will this happen to children I have in the future?

38. Autonomic Differential Diagnosis length SMADs. Clinical May appear in isolation (Nonsyndromic) or withother systemic; Goldberg-shprintzen syndrome; Neonatal Hypotonia http://www.neuro.wustl.edu/neuromuscular/autonomic.html

Front Search Index Links ... Patient Info AUTONOMIC DISORDERS Diseases or syndromes Acute Amyloidosis Catecholamines ... Systemic diseases External link: Pupil disorders System disorders Cardiac Gastrointestinal ... Urinary AUTONOMIC DISEASE SYNDROMES Systemic diseases Amyloidosis Diabetes Mellitus Porphyria Infections Chagas' HIV Leprosy Rabies Chronic renal or hepatic disease: Usually subclinical Immune disorders Acute Dysautonomia Paraneoplastic : Especially Small cell lung cancer Sensory neuronopathy: anti-Hu Dysautonomia : IgG vs a 3 subunit of acetylcholine receptor Enteric neuropathy anti-Hu CV-2 LEMS ? Collagen Vascular Disorders System Degenerations Idiopathic Orthostatic Hypotension Shy-Drager (Multiple systems atrophy) Parkinsonism: DOPA responsive Mitochondrial - MNGIE M yopathy and external ophthalmoplegia; N europathy; G astro- I ntestinal; E ncephalopathy) Neuronal intranuclear inclusion disease (NIID) Hereditary autonomic disorders Congenital Anhidrotic ectodermal dysplasia Aniridia : Paired box gene 6; 11p13 Biemond congenital anaesthesia Dopamine b -Hydroxylase deficiency (HSAN 2) Hirschsprung's congenital megacolon Hypoventilation Lacrimation: Absence Other congenital dysautonomias ... Riley-Day (HSAN 3): 9q31 Sensory PN + anhidrosis (HSAN 4): TRKA/NGF receptor; 1q21-q22

39. Cleft Lip And Palate And Velocardiofacial Syndrome [from CLAPA Ireland] VCFS is also known as shprintzen syndrome after Dr. Robert Shprintzenwho first described it in 1978. Though the two terms are often 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?

40. Di George/Velocardiofacial Syndrome - FISH Analysis FISH)based assays for identifying the deletions of 22q associated with DiGeorgesyndrome, velocardiofacial syndrome, shprintzen syndrome and isolated http://www.bcmgeneticlabs.org/tests/cyto/digeorgevelocardiofacial.html

DIGEORGE/VELOCARDIOFACIAL SYNDROME FISH ANALYSIS The Kleberg Cytogenetics Laboratory offers fluorescence in situ hybridization (FISH)-based assays for identifying the deletions of 22q associated with DiGeorge syndrome, velocardiofacial syndrome, 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. Reasons for Referral: 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 appears to be milder than DiGeorge syndrome with overt or submucous cleft palates, conotruncal defects, hypotonia, dysmorphic facies, developmental delay, small stature and velopharyngeal incompetence. Testing Methodology: FISH is the application of fluorescently-labeled DNA molecules to metaphase chromosomes and interphase nuclei for the detection of chromosome abnormalities and alterations. It is a rapid, reliable and direct approach for identifying patients with microdeletions or microduplications. This dual-probe FISH assay can detect deletions on chromosome 22 at band q11.2 and chromosome 10 at bands p13p14.

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