Beckwith-Wiedemann / Family Village / Library / The BeckwithWiedemann Support Network provides information and peer support to peopleand families affected by beckwith-wiedemann syndrome, works to increase http://www.familyvillage.wisc.edu/lib_beck.htm
Extractions: Web: http://www.beckwith-wiedemann.org/ The Beckwith-Wiedemann Support Network provides information and peer support to people and families affected by Beckwith-Wiedemann Syndrome, works to increase public and professional awareness and encourages research into the cause, early (including prenatal) detection, and treatment of BWS. BWSN will assist persons who wish to start a support group in their locality and provides parent-to-parent matching by similar situations and /or geographic location. They also try to match families with older children who have BWS with new families, to provide support and encouragement. The Network publishes the Beckwith-Wiedemann Support Network newsletter three times a year, at no cost to members. Members also receive a family directory. BWSN also publishes a brochure, "What is Beckwith-Wiedemann Syndrome?"
Beckwith-Wiedemann Syndrome (www.whonamedit.com) beckwithwiedemann syndrome Also known as Beckwith's syndrome Wiedemannssyndrome Wiedemann-Beckwith syndrome Wiedemann-Beckwith http://www.whonamedit.com/synd.cfm/1198.html
Extractions: Main symptoms are gigantism, macroglossia and umbilical abnormalities in newborn, enlarged liver and spleen, hyperplasia of the kidney, congenital abnormalities of the urinary tract, slight microcephaly, clonic seizures, often omphalocele (congenital hernia into the umbilical cord). Elements of congestive heart failure. Some patients develop hemihypertrophy, and there appears to be an increased risk of adrenal carcinoma, Wilms tumor, or other intra-abdominal neoplasms. Mental retardation may occur. Etiology unknown. Most cases sporadic, but autosomal dominant inheritance reported. In 1963 Beckwith reported the autopsy findings in three affected children in the preceding year at the annual meeting of the Western Society of Paediatric Residents, Los Angeles. In 1964 he documented two further cases in an abstract, which was read by title at the American Paediatric Society meeting, Seattle. Wiedemann in 1964 described three siblings with a malformation syndrome in which umbilical hernia and enlargement of the tongue were significant features.
Hans-Rudolf Wiedemann (www.whonamedit.com) Associated eponyms beckwithwiedemann syndrome A syndrome comprising gigantism,macroglossia and umbilical abnormalities in newborn, enlarged liver and spleen http://www.whonamedit.com/doctor.cfm/1001.html
Beckwith-Wiedemann Syndrome beckwithwiedemann syndrome. Child with beckwith-wiedemann syndrome showing macroglossia,hemihypertrophy (right side bigger than left) and organomegaly. http://biomed.brown.edu/Courses/BI280/Lec21/Lec21-E.htm
Beckwith Wiedemann, Syndrome : Sites Et Documents Francophones Translate this page Beckwith Wiedemann, Syndrome. Arborescence(s) du thesaurus MeSH contenant lemot-clé Beckwith Wiedemann, syndrome beckwith-wiedemann syndrome http://www.chu-rouen.fr/ssf/pathol/beckwithwiedemannsyndrome.html
Extractions: Genomic imprinting, the differential expression of a gene depending upon its parental origin, is a phenomenon which appears to be peculiar to mammalian genomes and may have evolved alongside placentation as a vital regulator of parental investment allocation between placenta and embryo . Disorders of imprinted genes tend to result in syndromes or symptoms in which abnormal tissue or organ growth features prominently, and it is likely that most if not all genes subject to imprinting will be found to play a role in growth regulation. Because of the profound effect of parental origin on gene expression, such disorders can arise not only from deletion or point mutation of one or the other copy, but also from uniparental disomy and from 'imprinting mutations' affecting the epigenetic modifications (primarily DNA methylation) responsible for the imprinting process. Beckwith-Wiedemann syndrome is an overgrowth syndrome affecting 1/13 700 livebirths and whose symptoms include gigantism and macroglossia, as well as a significantly increased predisposition to various childhood tumours e.g. Wilms tumour. Most cases are sporadic, but a significant minority (15%) are familial and the BWS locus was mapped to 11p15.5 in man; the autosomal dominant, sex-dependent mode of transmission suggested that the gene responsible was subject to imprinting. The homologous region in mouse chromosome 7 was known to contain two imprinted genes: insulin-like growth factor 2 (Igf2) and H19, which therefore became the main candidates for the 'BWS gene'. The Igf2 peptide stimulates the growth of undifferentiated cells, while H19 encodes an RNA found abundantly in developing embryos.
Extractions: "Questions and Answers About Living With Beckwith-Wiedemann Syndrome" is redistributed by University of Bonn, Medical Center Get this document via a secure connection !!! ATTENTION !!! CANCER FACTS National Cancer Institute National Institutes of Health What is Beckwith-Wiedemann Syndrome (BWS)? Beckwith-Wiedemann Syndrome (BWS) is a rare overgrowth syndrome that occurs in approximately 1 in every 15,000 births. A small number of infants and children with BWS develop cancer. Most children have only a few of the many distinct characteristics of the syndrome. The most common characteristics, which can range from mild to severe, are:
Extractions: 1Up Health Beckwith-Wiedemann syndrome Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Beckwith-Wiedemann syndrome Information Beckwith-Wiedemann syndrome Causes, Incidence, and Risk Factors Definition : Beckwith-Wiedemann syndrome is a consistent grouping of findings of unknown etiology (cause) and characterized by a large tongue ( macroglossia ), large organs ( visceromegaly ) and large body size ( macrosomia umbilical hernia or omphalocele (hernia of the navel), and low blood sugar in the newborn (neonatal hypoglycemia The cause of Beckwith-Wiedemann syndrome is unknown, but it appears to be genetic. Some cases may be associated with a defect in chromosome number 11. Affected children are often large at birth. Many have an abdominal wall defect, such as an umbilical hernia or omphalocele. They have a characteristic facial appearance with a gaping mouth and large tongue. Infancy can be a critical period because of low blood sugar (hypoglycemia), omphalocele (when present), and an increased rate of
1Up Health > Beckwith-Wiedemann Syndrome Information 1Up Health Diseases Conditions beckwithwiedemann syndrome. - Diseases Conditions . beckwith-wiedemann syndrome Information. Guide. Definition http://www.1uphealth.com/health/beckwith_wiedemann_syndrome.html
Extractions: 1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Beckwith-Wiedemann syndrome Information Guide Definition : Beckwith-Wiedemann syndrome is a consistent grouping of findings of unknown etiology (cause) and characterized by a large tongue ( macroglossia ), large organs ( visceromegaly ) and large body size ( macrosomia umbilical hernia or omphalocele (hernia of the navel), and low blood sugar in the newborn (neonatal hypoglycemia A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial reviewers . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).
BENCHMARK Analysis Of Beckwith-Wiedemann Syndrome Translate this page BENCHMARK analysis of beckwith-wiedemann syndrome, G2D Home. GO TO The numberindicates the strength of association to beckwith-wiedemann syndrome. http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U702
Health Library - Beckwith Wiedemann Syndrome Beckwith Wiedemann Syndrome. Synonyms Disorder Subdivisions General DiscussionResources beckwithwiedemann syndrome (BWS) is a rare genetic disorder. http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h
ORPHANET® : Beckwith-Wiedemann Syndrome beckwithwiedemann syndrome. Direct access to details Alias Exomphalos-macroglossia-gigantismsyndrome,Wiedemann-Beckwith syndrome. Home Page. http://www.orpha.net/static/GB/beckwith_wiedemann.html
Beckwith-Wiedemann Syndrome (BWS): DNA ANALYSIS beckwithwiedemann syndrome (BWS) Genetic Analysis. Indications for MolecularTesting for BWS. · Suspected diagnosis of a child with BWS. http://www.surgery.wustl.edu/bjcmdl/BWS.htm
Extractions: Beckwith-Wiedemann Syndrome (BWS): Genetic Analysis Suspected diagnosis of a child with BWS Suspected diagnosis of a congenital overgrowth syndrome with at least two of the following symptoms present: th % corrected for gestational age) macroglossia abdominal wall defects neonatal hypoglycemia ear creases/pits AIM: To provide molecular detection of methylation abnormalities of H19 and/or LIT1 or UPD of 11p15 both LIT1 and H19 associated with diagnosis of BWS. Direct mutation testing involves determination of restriction fragment sizes and methylation status following BamH1 + Not1 (Lit1) or Pst1 + Sma1 (H19) digestion and genomic Southern hybridization with Lit1 or H19 probes, respectively. Unmethylated, expressed regions are digested with Not1 or Sma1. Normal Lit1 gene expression occurs from the paternal allele with methylation of the maternal allele. Normal H19 expression occurs from the maternal allele with methylation of the paternal allele. Individuals with BWS and specific mutations exhibit unbalanced DNA patterns for one or both of these genetic regions. Confirmation of uniparental disomy (UPD) with microsatellite markers is also performed upon abnormal methylation of both LIT1 and H19.
Extractions: research project Beckwith-Wiedemann syndrome: ascertainment of the genetic causes, uniparental disomy, duplications, abnormal methylation patterns at LIT1, H19 or IGF2. Molecular genetic and clinical investigations of more than 100 patients. Contacts Prof. A. Schinzel (Project Leader) schinzel@medgen.unizh.ch Dr. A. Baumer (Project Leader) baumer@medgen.unizh.ch Supported By SNF Last Update Responsible Project Leader: Prof. A. Schinzel, Dr. A. Baumer Professor or Research Area Leader: Prof. Dr. Albert Schinzel Institute or Clinic: Faculty: Use the Eurospider retrieval system to find similar projects Use the Eurospider retrieval system to search the research report For authorized person(s) only Comments to uni research page generation 06.03.2003
Beckwith-Wiedemann Syndrome From Pediatrics / Endocrinology eMedicine Journal Pediatrics Endocrinology beckwithwiedemann syndrome Synonyms,Key Words, and Related Terms exomphalos, macroglossia, gigantism syndrome http://author.emedicine.com/ped/topic218.htm
Extractions: AUTHOR INFORMATION Section 1 of 11 Authored by Robert J Ferry, Jr, MD , Training Director, Assistant Professor, Department of Pediatrics, Division of Endocrinology and Diabetes, The University of Texas Health Science Center at San Antonio Coauthored by Pinchas Cohen, MD , Director of Research and Training, Professor, Department of Pediatrics, Division of Endocrinology, Mattel Children's Hospital, University of California at Los Angeles Robert J Ferry, Jr, MD, is a member of the following medical societies: American Academy of Pediatrics American Diabetes Association American Medical Association , and Endocrine Society Edited by Phyllis Speiser, MD , Director, Division of Pediatric Endocrinology, Children's Health Network of North Shore/LIJ Health System, Clinical Professor, Department of Pediatrics, New York University School of Medicine; Robert Konop, PharmD
GeneReviews : Beckwith-Wiedemann Syndrome GeneReviews beckwithwiedemann syndrome, Notes for physicians on Beckwith-Wiedemannsyndrome (BWS). beckwith-wiedemann syndrome / genetics. http://omni.ac.uk/whatsnew/detail/4003181.html
Extractions: Back to whats new page. GeneReviews : Beckwith-Wiedemann syndrome Notes for physicians on Beckwith-Wiedemann syndrome (BWS). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in March 2000, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Beckwith-Wiedemann Syndrome / genetics
Fact Sheet 3.67 Date reviewed 8/28/2000. Questions and Answers About Living With BeckwithWiedemannSyndrome. What is beckwith-wiedemann syndrome (BWS)? http://cis.nci.nih.gov/fact/3_67.htm
Extractions: Search Date reviewed: 8/28/2000 What is Beckwith-Wiedemann Syndrome (BWS)? Beckwith-Wiedemann Syndrome (BWS) is a rare overgrowth syndrome that occurs in approximately 1 in every 15,000 births. A small number of infants and children with BWS develop cancer Most children have only a few of the many distinct characteristics of the syndrome. The most common characteristics, which can range from mild to severe, are: About 10 percent of children with BWS develop cancer (or 10 out of 100 children with BWS). Studies suggest that the period of highest risk for developing cancer is before the age of 4 years. The most common types of cancer that occur in children with BWS are Wilms tumor (kidney cancer) and hepatoblastoma liver cancer ). Other types of cancer, which occur more rarely, include adrenocortical
