41. Velo-Cardio-Facial Syndrome velocardio-facial syndrome. Founded 1996.Support and resource network for familiescoping with velo-cardio-facial syndrome (aka Shprintzen syndrome). http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=shc29vel

42. IRSC - Rare Disorders, Velo-Cardio-Facial Syndrome Rare Disorders velocardio-facial syndrome. IRSC Home Rare Disorders velo-cardio-facial syndrome. Categories. http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Rare Disorders&subca

43. :: Ez2Find :: Velo-Cardio-Facial Syndrome html?disname=Velocardiofacial%20Syndrome; SAIDA, Site Info - Translate -Open New Window A definition of velo-cardio-facial syndrome along with a http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Velo-Cardio-Facial Syndrome Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Invisible Web Metasearch Nutricise Guides Velo-Cardio-Facial Syndrome ez2Find Home Directory Health Conditions and Diseases ... Genetic Disorders : Velo-Cardio-Facial Syndrome Related Categories Health: Conditions and Diseases: Rare Disorders Web Sites NORD - Velocardiofacial Syndrome [Site Info] [Translate] [Open New Window] A list of the synonyms, a general discussion and further resources. URL: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Velocardiofacial%20Syndrome SAIDA,

44. A To Z Encyclopedia Topic: Velo-Cardio-Facial Syndrome Genetics Program. Unfortunately, at this time, we are not able to provideinformation about this condition or procedure. However, we http://web1.tch.harvard.edu/cfapps/A2ZtopicDisplay.cfm?Topic=Velo-Cardio-Facial

45. Velo-cardio-facial Syndrome (VCFS) velocardio-facial syndrome (VCFS). VCFS is the most common cleft palate-associatedsyndrome. Characteristically, VCFS children have http://www.forwardface.org/misc_text/conditions/velocardio.htm

Velo-cardio-facial Syndrome (VCFS) VCFS is the most common cleft palate-associated syndrome. Characteristically, VCFS children have long faces, prominent jaws, flattened cheeks, underdeveloped lower jaws, bluish colors beneath the eyes, thin upper lip and down-slanting mouth and cleft palate. Affecting approximately 1:2-5,000 children, there is only a small chance (2-5%) that the condition will affect future offspring. Multiple heart abnormalities, learning disabilities, hearing loss, speech problems, and leg pain and behavior extremes may also be present. Cleft and lower jaw repairs and reconstructive ear surgeries are often required.

46. Velo-cardio-facial Syndrome velocardio-facial syndrome (VCF). (2002). I. Introduction · Who referred youhere today? · What specific questions would you like to have answered today? http://www.genesoc.com/counseling/Outlines/VCF.htm

Resources for Genetic Counselors site updated May 10, 2004 outlines links search Velo-Cardio-Facial Syndrome (VCF) I. Introduction: Who referred you here today? What specific questions would you like to have answered today? What information have you already been given? II. Elicit Medical History III. Elicit Family History and Pedigree IV. What is VCF? A highly variable syndrome of associated anomalies including congenital heart disease, dysmorphic features, palate anomalies, and some degree of learning disabilities or mental retardation Children with VCF often have feeding problems and speech problems V. Etiology and Natural History VCF occurs in about 1/4000 live births About 90% of people with VCF have a deletion at 22q11.2 Most cases are a result of a new mutation In 10-20% of cases one parent also has a deletion and VCF phenotype VI. Recurrence Risk Children of those with VCF have a 50% chance of inheriting the deletion Parents of a child with a new mutation have a very low risk of having another child with the mutation VII. Clinical Features

47. SAIDA - Velo-Cardio-Facial Syndrome Support Group Of South Africa velocardio-facial syndrome (VCFS), also known as Shprintzen Syndrome, and sometimespresenting as the Di George Sequence, is caused by the deletion of a small http://sunsite.wits.ac.za/saida/disorders/velo_cardio_facial_society.htm

Velo-Cardio-Facial Syndrome (VCFS), also known as Shprintzen Syndrome, and sometimes presenting as the Di George Sequence, is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion). VCFS is characterised by heart abnormalities, palatal problems causing speech difficulties, hearing problems and learning difficulties. Children with VCFS have similar facial characteristics although these are not always noticeable. In addition, there can be immune system deficiencies and psychological problems. In fact, there are over 180 anomalies which can be caused by the deletion. However, none occur with a 100% frequency and some persons may be affected very mildly whilst at the other end of the spectrum others may be severely affected. More often than not, the problems relating to VCFS are dealt with in isolation. Yet for the successful intervention and handling of VCFS a team approach is essential. Thus there is a need for VCFS to be acknowledged and recognized amongst the medical fraternity, speech therapists, educators and parents. We will therefore be producing a handbook and leaflets in due course. Should you know of any families affected by the syndrome please feel free to direct them to us. We will be happy to provide further information on request.

48. Health Library - velocardio-facial syndrome. Founded 1996.Support and resource network for familiescoping with velo-cardio-facial syndrome (aka Shprintzen syndrome). http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc

49. Genetic Disorders, Velo-Cardio-Facial Syndrome Category Home Health Conditions and Diseases Genetic Disorders velocardio-facial syndrome. * Site Title · The name of the site. http://www.iseekhealth.com/directory/index.php?method=show_link_exchange&directo

50. »»Reviews For Velo-Cardio-Facial Syndrome«« velocardio-facial syndrome Reviews. Related Subjects Genetic_Disorders MorePages velo-cardio-facial syndrome Page 1 2. Search site for a Book Review. http://www.booksunderreview.com/Health/Conditions_and_Diseases/Genetic_Disorders

Velo-Cardio-Facial Syndrome Reviews Related Subjects: More Pages: Velo-Cardio-Facial Syndrome Page 1 Book reviews for "Velo-Cardio-Facial Syndrome" sorted by average review score: Management of Genetic Syndromes Published in Hardcover by Wiley-Liss (15 January, 2001) Authors: Suzanne B. Cassidy and Judith E. Allanson Amazon base price: Used price: Buy one from zShops for: Average review score: Excellent Educational Text "...a detailed practical guide for management of patients with genetic conditions...an asset to the bookshelf of any healthcare provider...also an excellent educational text..." (Journal of Genetic Counseling, Vol. 12, No. 4, August 2003) Useful Book "...quite useful to anyone...interested in a taste of what emerging technologies in genomics, proteomics, and bioinformatics can bring to bear on questions of potential importance in biomedical research." (American Journal of Human Genetics, Vol. 72, 2003) "a wealth of practical information" Cassidy and Allanson have assembled a talented group of authors to address the more common genetic disorders. The chapters are extremely well organized and each emphasizes not only diagnostic techniques and differential diagnosis, but also patient management. The generalist will find a wealth of practical information readily available and accessible. The clinical geneticist will discover and rediscover valuable "pearls" within this text. Edward R.B. McCabe, Department of Pediatrics, Mattel Children's Hospital at UCLA Hereditary Hearing Loss and Its Syndromes (Oxford Monographs on Medical Genetics, No 28)

51. Velo-Cardio-Facial Syndrome From Linkspider UK Health Directory Support Join, post and read mail for this group which concerns DiGeorge Syndromeand velo-cardio-facial syndrome. NORD - Velocardiofacial Syndrome - A list http://linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Velo-Cardi

Match » -All words -Any word -Exact text Search » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Add my Site Toolbar Affiliates Directory Topic Velo-Cardio-Facial Syndrome assoicated to Health Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Velo-Cardio-Facial Syndrome ( See Also: Health: Conditions and Diseases: Rare Disorders Velo-Cardio-Facial Syndrome Educational Foundation - Details about this organization as well as an extensive fact sheet about the disease. Includes details about support groups, a mission statement and contact information.

52. Publications - Velo-Cardio-Facial Syndrome velocardio-facial syndrome Eliez S, Palacio-Espasa F, Spira A, et al. Young childrenwith velo-cardio-facial syndrome Psychological and language phenotypes. http://www-cap.stanford.edu/pubs/vcfs.html

Velo-Cardio-Facial Syndrome Eliez S, Palacio-Espasa F, Spira A, et al.: Young children with velo-cardio-facial syndrome: Psychological and language phenotypes. European Child and Adolescent Psychiatry (in press). Children and Adolescents with Velo-Cardio-Facial Syndrome: a Volumetric MRI Study. Eliez S., Schmitt E.J., White C.D., Reiss A.L. Accepted in American Journal of Psychiatry CAP Publications Autism Developmental Psychopathology Eating Disorders ... Sex Chromosomal Abnormalities Velo-Cardio-Facial Syndrome Williams Syndrome

53. PillSupplier.com - Conditions And Diseases/Genetic Disorders/Velo-Cardio-Facial Conditions and Diseases/Genetic Disorders/velocardio-facial syndrome. Links NORD- Velocardiofacial Syndrome rate it review it A list of the synonyms, a http://www.pillsupplier.com/dir/874/

Category: Velo-Cardio-Facial Syndrome HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Login Conditions and Diseases/Genetic Disorders/Velo-Cardio-Facial Syndrome Links: NORD - Velocardiofacial Syndrome [rate it] [review it] A list of the synonyms, a general discussion and further resources. SAIDA, [rate it] [review it] A definition of Velo-Cardio-Facial Syndrome along with a support group in Johannesburg. Velo-Cardio-Facial Syndrome (VCFS) [rate it] [review it] Overview of VCFS describing condition, causes and red flags. Provides contacts for more information and treatment. By the Center for the Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome, SUNY Upstate Medical University (USA). Velo-Cardio-Facial Syndrome Educational Foundation [rate it] [review it] Details about this organization as well as an extensive fact sheet about the disease. Includes details about support groups, a mission statement and contact information. Search Looking for something in particular? the entire directory only this category More search options Pages Updated On: Fri May 28 2004 - 04:40:42 About Us Frequently Asked Questions Contact Us Order Status ... Health Resources

54. 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, sharing information and educating people about VCFS. http://www.vcfs.com.au/

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55. EMedicine - Velocardiofacial Syndrome : Article Excerpt By: Robert Ardinger, Jr, eMedicine World Medical Library. (advertisement). Excerpt from Velocardiofacial syndrome. Pleaseclick here to view the full topic text Velocardiofacial syndrome. http://www.emedicine.com/ped/byname/velocardiofacial-syndrome.htm

(advertisement) Excerpt from Velocardiofacial Syndrome Synonyms, Key Words, and Related Terms: VCFS, DiGeorge sequence, Shprintzen syndrome, Shprintzen's syndrome, 22q11 deletion Please click here to view the full topic text: Velocardiofacial Syndrome Background: Velocardiofacial syndrome (VCFS) is a genetic condition characterized by structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, developmental delay, and learning disabilities. Robert Shprintzen et al first described it in 1978. The cardiac defects usually are of the conotruncal type, in which embryonically derived defects occur secondary to abnormal development of the outflow portion of the developing heart. Defects in this grouping that occur with VCFS include truncus arteriosus, tetralogy of Fallot, pulmonary atresia with ventricular septal defect, absent pulmonary valve syndrome, and interrupted aortic arch type B. Ventricular septal defects, D-transposition of the great arteries, and aortic stenosis also may occur. Over 150 different clinical features are associated with VCFS, with no single anomaly present in every patient. Some abnormalities occur more commonly than others. About 10% of VCFS patients have the DiGeorge sequence, which consists of conotruncal cardiac anomaly, hypocalcemia, thymic aplasia, immune deficiency, and, sometimes, cleft palate. As many as 15-20% of patients have Robin sequence, which includes small jaw, cleft palate, and glossoptosis. Reports indicate that patients with VCFS may be mistakenly categorized as having the CHARGE syndrome (ie, coloboma, heart disease, atresia, choanae, retarded growth and retarded development and/or CNS anomalies, genital hypoplasia, and ear anomalies and/or deafness). VCFS is a specific syndrome that includes as part of its phenotypic spectrum the DiGeorge sequence, Robin sequence, and disorders associated with CHARGE syndrome.

56. Development And Neurobiology: Genetics Of Childhood Disorders: XXV. Velocardiofa facial syndrome patients. Am J Hum Genet 61620?629. Eliez S, Schmitt E, WhiteCD, Reiss AL (2000), Children and adolescents with velocardiofacial syndrome a http://info.med.yale.edu/chldstdy/plomdevelop/genetics/01aprgen.htm

J Am Acad Child Adolesc Psychiatry,40:4,489-491 April 2001 Doron Gothelf, M.D., and Paul J. Lombroso, M.D Velocardiofacial syndrome (VCFS) is a genetic syndrome with a range of psychiatric symptoms. Identification of the gene(s) involved in its expression should lead to an improved understanding of both normal CNS development and how specific mutations contribute to psychiatric disorders. VCFS was first defined by Robert Shprintzen more than 20 years ago. Only in recent years, with the increased interest in molecular biology in psychiatry, has it received wider recognition. VCFS has an estimated prevalence of 1 in 4,000, making it the second most common genetic syndrome after Down syndrome. It is caused by a microdeletion in the long arm of chromosome 22. Several disorders, such as DiGeorge syndrome, some cases of Pierre-Rubin syndrome, and other rarer syndromes, are caused by a seemingly identical microdeletion. Identification of the gene(s) that are affected by the deletion will be required before it is known whether the same or different genes contribute to the expression of these disorders. Together with VCFS, they are collectively referred to as the 22q11 deletion syndromes (22qDS). Ninety percent of patients with 22qDS have a deletion of approximately 3 million base pairs, while 7% have smaller deletions of 1.5 million bases. Similar to other syndromes caused by a microdeletion, the molecular diagnosis of 22qDS is usually made by fluorescence in situ hybridization (FISH) (Ward et al., 1999). In FISH, a fluorescently labeled sequence of a few thousand nucleotides is constructed in the laboratory. This sequence is used as a probe that will bind to the complementary sequence of bases on chromosome 22. As there are two copies of each chromosome, two hybridization signals will appear on the FISH examination in the normal individual. In those cases in which a deletion is present, fluorescence will be detected on only one chromosome

57. Introduction: Velocardiofacial Syndrome - WrongDiagnosis.com Introduction Velocardiofacial syndrome. Contents for Velocardiofacial syndrome http://www.wrongdiagnosis.com/v/velocardiofacial_syndrome/intro.htm

Diseases IMPORTANT! Use of this site is subject to our and Home Symptoms Diseases Risks Search: We show you all these ads in order to provide this free site; give your feedback WrongDiagnosis TM Premium Report: Diabetes Diagnosis and Misdiagnosis Available Now! Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z 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 ... Diseases Did we miss something? Please tell your story or provide feedback or suggestions 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

58. Complications Of Velocardiofacial Syndrome - WrongDiagnosis.com Complications of Velocardiofacial syndrome. About complications Complicationsof Velocardiofacial syndrome are secondary conditions http://www.wrongdiagnosis.com/v/velocardiofacial_syndrome/complic.htm

Diseases Velocardiofacial syndrome IMPORTANT! Use of this site is subject to our and Home Symptoms Diseases Risks Search: We show you all these ads in order to provide this free site; give your feedback WrongDiagnosis TM Premium Report: Diabetes Diagnosis and Misdiagnosis Available Now! Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Velocardiofacial syndrome Next sections Statistics about Velocardiofacial syndrome Next chapters: Translocation Chromosome Disorders Turner Syndrome Klinefelter syndrome Jacobs syndrome ... Feedback Complications of Velocardiofacial syndrome About complications: Complications of Velocardiofacial syndrome are secondary conditions, symptoms, or other disorders that are caused by Velocardiofacial syndrome. In many cases the distinction between symptoms of Velocardiofacial syndrome and complications of Velocardiofacial syndrome is unclear or arbitrary. Complications list for Velocardiofacial syndrome: The list of complications that have been mentioned in various sources for Velocardiofacial syndrome includes: Hypernasal speech ( see Nasal voice Cleft palate Cardiac abnormalities ( see Heart symptoms Diseases Velocardiofacial syndrome Did we miss something? Please

59. Velocardiofacial Syndrome - Medical Dictionary Definitions Of Popular Medical Te MedicineNet Home MedTerms medical dictionary AZ List Velocardiofacial syndrome. Advanced Search. http://www.medterms.com/script/main/art.asp?articlekey=5972

60. Plastic And Reconstructive Surgery | Clefts | Velocardiofacial Syndrome Clefts. Print Format. Velocardiofacial syndrome. http://www.ucsfhealth.org/childrens/medical_services/plassur/clefts/conditions/v

University of California, San Francisco About UCSF Quick Links... Admissions Appointments Billing Calendar Clinical Trials Clinics Conditions and Treatments Contact a Patient Contact Us Directions and Maps For Health Professionals Jobs Make A Donation Medical Dictionary Medical Tests News Patient Profiles Specialized Services UCSF Medical Center Volunteer Services Search Medical Services Plastic and Reconstructive Surgery Topics Clefts To Visit Us ... Other Resources Clefts Print Format 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 experts at UCSF Children's Hospital.

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