41. The Velo-cardio-facial Syndrome: A Clinical And Genetic Analysis -- Shprintzen E Thirtynine patients with the velo-cardio-facial syndrome are described in order to further delineate this probably common recurrent pattern congenital http://pediatrics.aappublications.org/cgi/content/abstract/67/2/167

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Shprintzen, R. J. Articles by Wolford, L. The velo-cardio-facial syndrome: a clinical and genetic analysis RJ Shprintzen, RB Goldberg, D Young and L Wolford Thirty-nine patients with the velo-cardio-facial syndrome are described in order to further delineate this probably common recurrent pattern congenital malformation syndrome. Frequent features include cleft palate, cardiac anomalies, typical facies, and learning disabilities. Less frequent findings include microcephaly, mental retardation, small stature, slender hands and digits, minor auricular anomalies and inguinal hernia. Ths Robin malformation sequence was found in four patients. The congenital heart

42. Velo-cardio-facial Syndrome Associated With Ventricular Septal Defect, Pulmonary velocardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries. KB Jedele, VV Michels, http://pediatrics.aappublications.org/cgi/content/abstract/89/5/915

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Jedele, K. B. Articles by Feldt, R. H. Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries KB Jedele, VV Michels, FJ Puga and RH Feldt Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905. We report on 15 patients with velo-cardiofacial syndrome who had a severe form of tetralogy of Fallot (pulmonary atresia, ventricular septal defect, and hypoplastic pulmonary arteries). Noncardiac anomalies in these patients included typical facial and ear anomalies in 15, nasal speech in 13, palate anomalies in 10, and developmental delay in 10. Seven patients had significant bronchospasm, which has not been reported in association with

43. Velo-Cardio-Facial Syndrome velocardio-facial syndrome. velo-cardio-facial syndrome Educational Foundation. Copyright of Ability All Rights Reserved1990 Webmaster . http://www.ability.org.uk/Velo-Cardio-Facial_Syndrome.html

"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Velo-Cardio-Facial Syndrome Velo-Cardio-Facial Syndrome Educational Foundation Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

44. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ velocardio-facial syndrome (VCFS) is a genetic disorder caused by the SAIDA, - A definition of velo-cardio-facial syndrome along with a support group http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Velo-Cardio-Facial Syndrome Subtopics See Also: Health: Conditions and Diseases: Rare Disorders Search Google: Velo-Cardio-Facial Syndrome News Books Links ... UF Scientist Finds Unexpected Link Between Cat And Human AIDS Viruses (September 9, 2005) full story Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Physical Fitness Cuts Men's Heart Disease Risk In Half, New Queen's Study Shows

45. Genetics And Major Psychiatric Disorders:A Program For Genetic Counselors center described the velocardiofacial syndrome (VCFS) in 1978. analysis of velocardio-facial syndrome patients with psychiatric disorders. http://www.nchpeg.org/cdrom/vcfs.htm

COUNSELING AIDS GENETIC DISORDERS Velocardiofacial Disorder Chromosomal Deletion Features Raising Index How to Proceed Medical Management References Homocystinuria Metachromatic Leukodystrophy Copropoporphyria Acute Intermittent Prophyria Wolfram Syndrome Fragile X Syndrome RESEARCH UPDATES RESOURCE LINKS SELF TEST ON CDROM CONTACT US ... OF THE CD Chromosomal Deletion 22q11.2: An Important Genetic Syndrome with Psychiatric Manifestations The deletion of chromosome 22q11 is associated with a high frequency of behavioral disorder with attention deficit disorder, oppositional defiant disorder, separation anxiety disorder, generalized anxiety disorder and depression during childhood, and psychosis (bipolar disorder and schizophrenia) during adolescence and young adulthood. The 22q11 deletion generates various phenotypes, which initially were regarded as distinct syndromes. DiGeorge syndrome (DGS) was described in 1968 by immunologists. These patients demonstrated thymic and parathyroid hypoplasia with right-sided cardiac malformations.

46. Velocardiofacial Syndrome [NIDCD Health Information] Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over The name velocardiofacial syndrome comes from the Latin words velum http://www.nidcd.nih.gov/health/voice/velocario.asp

Change text size: S M L Home ... 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.

47. Special Child: Disorder Zone Archives - Velocardiofacial Syndrome Velocardiofacial syndrome (VCFS), also known as DiGeorge syndrome, For more information on velocardiofacial syndrome, please see the following http://www.specialchild.com/archives/dz-029.html

Disorder Zone Archives Velocardiofacial Syndrome/ DiGeorge Syndrome Daniel Avram Keri Reigle Introduction Velocardiofacial syndrome (VCFS), also known as DiGeorge syndrome, is a disorder characterized by cleft palate, heart abnormalities, learning disabilities, and various other clinical findings. The name velocardiofacial comes from the Latin words "velum" meaning palate, "cardia" meaning heart, and "facies" having to do with the face. The cause of VCFS is unknown, however it is the result of a deletion of the long arm of chromosome 22 (22q11.2 deletion). It is said to be an autosomal dominant disorder, which means that only one parent needs to have the gene to pass it along to their children. When one of the parents has VCFS, the chances of their children having the syndrome is about 50/50 for each birth. Research has shown, however, that VCFS is inherited in only about 10 to 15 percent of the cases. Therefore, in most cases, neither parent has the syndrome or carries the defective gene and the cause of the deletion is unknown. VCFS is the fourth most common birth defect and occurs in 1 out of every 700 live births. Currently, 1 in every 2,000 people is said to have the disorder. Estimates show that there are over 130,000 individuals with this syndrome in the United States. The history of VCFS can be rather complicated. The first description of the syndrome was made in 1968 by Dr. William Strong. Since then, it was described by various other doctors and was given several different names including conotruncal anomaly face syndrome (CTAF), DiGeorge syndrome, Opitz G/BBB syndrome, and finally in 1978, it was identified as velocardiofacial syndrome. Since there are several diagnostic names for the disorder, many professionals now refer to patients simply as having a 22q11.2 deletion.

48. NORD - National Organization For Rare Disorders, Inc. National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Velocardiofac

49. EMedicine - Velocardiofacial Syndrome : Article By Robert Ardinger, Jr, MD Velocardiofacial syndrome Velocardiofacial syndrome (VCFS) is a genetic condition characterized by structural or functional palatal abnormalities, http://www.emedicine.com/ped/topic2395.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Cardiology Velocardiofacial Syndrome Last Updated: October 27, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: VCFS, DiGeorge sequence, Shprintzen syndrome, Shprintzen's 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

50. OMIM - VELOCARDIOFACIAL SYNDROME http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=192430

51. Entrez PubMed Velocardiofacial syndrome is also known to affect brain structure. The most prominent structural findings in velocardiofacial syndrome are reduced white http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

52. Velocardiofacial Syndrome Support Group, Cincinnati Children's Hospital Medical Children s Hospital Medical Center of Cincinnati offers information on the Velocardiofacial syndrome Support Group. http://www.cincinnatichildrens.org/visit/support/groups/velocardiofacial.htm

Home Contact Us Site Map Go to Advanced Search ... Sudden Infant Death Syndrome Velocardiofacial Syndrome Verbal Apraxia Visual Impairment Support Groups Velocardiofacial Syndrome Cincinnati Children's Hospital Medical Center provides support for patients and families through the Velocardiofacial Syndrome Support Group. For more information about the Velocardiofacial Syndrome Support Group, call Jeannie Meyer, 513-829-9778, or Melissa Parcell, 513-965-8514. Families may also recieve support and information from the Family Resource Center Newsroom Events Maps / Directions ... Stay Informed 3333 Burnet Avenue, Cincinnati, Ohio 45229-3039 Legal Notice Serving infants to adolescents, Cincinnati Children's Hospital Medical Center is an international leader in pediatric health care, research and education. Send this page to a friend Send ecards to patients or friends. Printer-friendly Corporate Information ... Community Education and Events divsLoaded=1;

53. Introduction: Velocardiofacial Syndrome - WrongDiagnosis.com Introduction to Velocardiofacial syndrome as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/v/velocardiofacial_syndrome/intro.htm

Home Symptoms Diseases Risks ... Diseases Search our medical database Subscribe to our free Newsletter sample Send this page to a friend 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 ... Statistics by Country for Velocardiofacial syndrome Next chapters: Translocation Chromosome Disorders Turner Syndrome Klinefelter syndrome Jacobs syndrome ... Feedback Introduction: Velocardiofacial syndrome Statistics and Velocardiofacial syndrome: Various sources and calculations are available in statistics about Velocardiofacial syndrome prevalence and incidence statistics for Velocardiofacial syndrome , and you can also research other medical statistics in our statistics center 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 provide feedback or suggestions By using this site you agree to our . 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

54. Statistics By Country For Velocardiofacial Syndrome - WrongDiagnosis.com Countryspecific prevalence and incidence statistics for Velocardiofacial syndrome using extrapolations to estimated populations and diagnosis rates. http://www.wrongdiagnosis.com/v/velocardiofacial_syndrome/stats-country.htm

Home Symptoms Diseases Risks ... Velocardiofacial syndrome Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Velocardiofacial syndrome Next sections Glossary for Velocardiofacial syndrome Next chapters: Translocation Chromosome Disorders Turner Syndrome Klinefelter syndrome Jacobs syndrome ... Feedback Statistics by Country for Velocardiofacial syndrome About these extrapolations of prevalence and incidence statistics for Velocardiofacial syndrome: These statistics are calculated extrapolations of various prevalence or incidence rates against the populations of a particular country or region. The statistics used for prevalence/incidence of Velocardiofacial syndrome are typically based on US, UK, Canadian or Australian statistics. This extrapolation calculation is automated and does not take into account any genetic, cultural, environmental, social, racial or other differences across the various countries and regions for which the extrapolated Velocardiofacial syndrome statistics below refer to. As such, these extrapolations may be highly inaccurate (especially for developing or third-world countries) and only give a general indication (or even a meaningless indication) as to the actual prevalence or incidence of Velocardiofacial syndrome in that region. About prevalence and incidence statistics in general for Velocardiofacial syndrome: The word 'prevalence' of Velocardiofacial syndrome usually means the estimated population of people who are managing Velocardiofacial syndrome at any given time (i.e. people with Velocardiofacial syndrome). The term 'incidence' of Velocardiofacial syndrome means the annual diagnosis rate, or the number of new cases of Velocardiofacial syndrome diagnosed each year (i.e. getting Velocardiofacial syndrome). Hence, these two statistics types can differ: a short disease like

55. CHIN: Velocardiofacial Syndrome Interactive forums, resources, and internet links for families, adults with CHD, nurses, and other health care professionals with an interest in pediatric http://tchin.org/resource_room/c_art_01.htm

Velocardiofacial Syndrome Written by: Rosalie Goldberg, M.S. C.G.C. Genetic Counselor Human Genetics Program, Family Core Velo-Cardio-Facial Syndrome Institute, Montefiore Medical Center, Albert Einstein College of Medicine Posted: May 9,1997 Velo-cardio-facial syndrome (VCFS) is a genetic condition commonly associated with cleft palate, cardiac malformations, severe speech problems and learning disabilities. VCFS, like many genetic disorders, may arise spontaneously as a new mutation, or may be inherited from an affected parent. The mutation causing VCFS is a deletion of genetic material on one of the two chromosome 22's. If the mutation is present in the parent, then that parent has a 50% chance of passing on the deletion to his or her children. This is called autosomal dominant inheritance. Ninety percent of patients with the 22q11.2 deletion have not inherited the deletion from either parent; in fact, the mutation is a new occurrence. We do not yet know how or why these spontaneous mutations occur. A laboratory test is available to look for 22q11 deletions. The test will be described below. The face of VCFS has a characteristic although not abnormal appearance. In a young child it is the nose and ears that direct the geneticist, cardiologist, otolaryngologist (ear doctor) or plastic surgeon to think of the syndrome. The diagnosis is suspected in newborns with a combination of congenital heart disease and cleft palate. Most often those youngsters have minor anomalies of the external ears as well as the heart and palate. Feeding problems with nasal regurgitation of milk are common. The most frequent heart problems seen in children with a deletion of chromosome 22q are interrupted aortic arch, truncus arteriosus, tetralogy of Fallot with pulmonary atresia, absent pulmonary valve syndrome, simple tetralogy of Fallot, conotruncal venticular septal defect and any congenital heart defect with absence of the thymus.

56. Velocardiofacial (22q11.2 Deletion) Syndrome | Craniofacial Center | Children's Information about velocardiofacial syndrome or 22q11.2 deletion syndrome, a genetic disorder linked with more than 30 different identifying features. http://craniofacial.seattlechildrens.org/conditions/velocar.asp

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

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

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

58. Plastic And Reconstructive Surgery | Clefts | Velocardiofacial Syndrome Velocardiofacial syndrome. Signs and Symptoms Diagnosis Treatment. Diagnosis. Although genetic testing is available for VCFS, it usually is diagnosed by http://www.ucsfhealth.org/childrens/medical_services/plassur/clefts/conditions/v

University of California, San Francisco About UCSF Search Welcome Hospitals and Clinics Appointments Billing ... Other Resources Clefts Velocardiofacial Syndrome Signs and Symptoms Diagnosis Treatment Diagnosis Although genetic testing is available for VCFS, it usually is diagnosed by physical examination at birth. VCFS can exhibit different characteristics in different children, and therefore it is important that a knowledgeable team of specialists evaluate a child so that nothing is overlooked. Shortly after birth, the child should be seen by a nurse from the Craniofacial Center, who will make sure he or she is able to adequately feed and breathe since swallowing problems are common in babies with VCFS. Within the first two months of life, the infant should be seen for a full craniofacial team evaluation so that appropriate referrals can be made to treat the child's unique needs. Heart defects should be diagnosed and treated by an experienced pediatric cardiologist. Immune deficiencies should be diagnosed and treated by an experienced pediatric endocrinologist. VCFS should be diagnosed and treated by an experienced team of experts recognized by the American Cleft Palate-Craniofacial Association , like the Center for Craniofacial Anomalies at UCSF.

59. Velocardiofacial Syndrome Velocardiofacial syndrome Updated June 16, 2005 Velocardiofacial syndrome (VCFS) Cincinnati Children s Hospital, Cincinnati OH http://www.noah-health.org/en/blood/congenital/types/velocardiofacial.html

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Heart and Blood Change text size: Velocardiofacial Syndrome Updated: June 16, 2005 Velocardiofacial Syndrome National Institute on Deafness and Other Communication Disorders Velocardiofacial Syndrome Congenital Heart Information Network Velocardiofacial Syndrome (VCFS) Cincinnati Children's Hospital, Cincinnati OH Velo-Cardio-Facial Syndrome: Specialist Fact Sheet VCFS Educational Foundation Velo-cardial-facial Syndrome Support Groups VCFS Educational Foundation Researched by NOAH Contributing Editor: Patricia E. Gallagher, MLS, MA, AHIP, The New York Academy of Medicine Library NOAH Heart and Blood Congenital Heart Diseases Specific Types > Velocardiofacial Syndrome Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

60. Velocardiofacial Syndrome Velocardiofacial syndrome Updated April 4, 2004 Velocardiofacial syndrome (VCFS) Cincinnati Children s Hospital, Cincinnati OH http://www.noah-health.org/en/genetic/conditions/velo.html

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Genetic Diseases Change text size: Velocardiofacial Syndrome Updated: April 4, 2004 Velocardiofacial Syndrome National Institute on Deafness and Other Communication Disorders Velocardiofacial Syndrome Congenital Heart Information Network Velocardiofacial Syndrome (VCFS) Cincinnati Children's Hospital, Cincinnati OH Velo-Cardio-Facial Syndrome: Specialist Fact Sheet VCFS Educational Foundation Velo-cardial-facial Syndrome Support Groups VCFS Educational Foundation Researched by NOAH Contributing Editor: NOAH Team NOAH Genetic Diseases Specific Conditions > Velocardiofacial Syndrome Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

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