Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Beckwith-Wiedemann Syndrome : Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome Beckwith-Wiedemann syndrome in the newborn is a consistent group of findings of unknown cause and is characterized by large tongue (macroglossia), large organs (visceromegaly), large body size (macrosomia), hernia of the navel (omphalocele) and small head (microcephaly). Next Image Jump to another image Beckwith-Wiedemann Syndrome Metopic Ridge
Kprones BeckwithWiedemannID10037 Patient with beckwithwiedemann syndrome. The face shows the enlarged tongue Clinical features and natural history of beckwith-wiedemann syndrome http://www.infobiogen.fr/services/chromcancer/Kprones/BeckwithWiedemannID10037.h
Extractions: Home Genes Leukemias Solid Tumours ... NA Identity Other names EMG syndrome Inheritance incidence of 7/10 ; given the variable expression of the symptoms, the actual frequency is likely to be higher; generally there is sporadic occurrence of the syndrome (85%); inheritance is mostly maternal (imprinting) with a more severe phenotype after maternal transmission Clinics Note clinically and genetically heterogeneous; three distinct regions on 11p15 have been associated with BWS (BWSCR1/2/3); BWSCR2 seems to be particularly associated with hemihypertrophy Phenotype and clinics multiple features that occur variably; most prominent is the EMG triad (exomphalos-macroglossia-gigantism): apart from the abdominal wall defects and pre- and postnatal growth abnormalities, earlobe pits or creases, facial nevus flammeus, hypoglycemia, renal abnormalities and hemihypertrophy (unilateral overgrowth) are frequently seen Patient with Beckwith-Wiedemann syndrome. The face shows the enlarged tongue (macroglossia), the ear the typical earlobe creases - Marcel Mannens Neoplastic risk the increased risk for childhood solid tumours is 7.5% (thousand fold increase); tumours most frequently seen are
Extractions: Advanced Search Or click the first letter of a drug name: A B C D ... Z Injury Disease Nutrition Poison ... Metopic ridge Beckwith-Wiedemann syndrome is characterized by a consistent set of symptoms including a large tongue ( macroglossia ), large organs ( visceromegaly ), large body size ( macrosomia umbilical hernia or omphalocele (hernia of the navel), and low blood sugar in the newborn (neonatal hypoglycemia ). The cause is unknown. Causes 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.
Beckwith-Wiedemann Syndrome Notes for physicians on beckwithwiedemann syndrome (BWS). This document includesdiagnosis, a clinical description, differential diagnosis, management, http://omni.ac.uk/browse/mesh/D001506.html
Extractions: low graphics broader: Chromosome Disorders other: Angelman Syndrome Branchio-Oto-Renal Syndrome Down Syndrome Prader-Willi Syndrome ... 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 (updated April 2003), 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. Beckwith-Wiedemann Syndrome / genetics
Beckwith-Wiedemann Syndrome - Genetics Genetics of beckwithwiedemann syndrome and Related Tumours Maher ER, ReikW beckwith-wiedemann syndrome imprinting in clusters revisited. http://www.cancerindex.org/geneweb/X2217.htm
Beckwith-Wiedemann Syndrome - Wikipedia, The Free Encyclopedia beckwithwiedemann syndrome (BWS) is a very rare genetic overgrowth syndrome (prevalenceof about 1 in 36000). This condition is caused either by mutations http://en.wikipedia.org/wiki/Beckwith-Wiedemann_syndrome
Extractions: Over US$240,000 has been donated since the drive began on 19 August. Thank you for your generosity! Beckwith-Wiedemann syndrome (BWS) is a very rare genetic overgrowth syndrome (prevalence of about 1 in 36,000). This condition is caused either by mutations in DNA or by errors in imprinting Symptoms of the illness include macroglossia or 'large tongue'. Macroglossia occurs in approximately 80% of cases and often results in 'floppy' airways which are often treated by a tracheotomy edit The Pediatric Bulletin This medical article is a stub . You can help Wikipedia by expanding it Retrieved from " http://en.wikipedia.org/wiki/Beckwith-Wiedemann_syndrome Categories Eponymous diseases Medicine stubs Views Personal tools Navigation Search Toolbox What links here Related changes Upload file Special pages ... Permanent link This page was last modified 23:20, 4 August 2005.
Hill Health Topics A-Z - Beckwith Wiedemann Syndrome Beckwith Wiedemann Syndrome. National Organization for Rare Disorders beckwithwiedemann syndrome (BWS) is a rare genetic disorder. http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord52&SEC
Image: Macroglossia In Beckwith-Wiedemann Syndrome Click here to return to the Pediatric Surgery at Brown Home Page. Key wordsmacroglossia, tongue, macrosomia, hernia of umbilical cord, omphalocele, http://bms.brown.edu/pedisurg/Brown/IBImages/AbdWallDefects/Macroglossia.html
Extractions: Click here to return to the Pediatric Surgery at Brown Home Page Key words: macroglossia, tongue, macrosomia, hernia of umbilical cord, omphalocele, exomphalos, umbilical cord, Beckwith-Wiedeman, Wiedemann, Wilms, hepatoblastoma, insulin, hypoglycemia, hemi-hypertrophy, aniridia, peel, gastroschisis, abdominal wall defect, laparoschisis, scaphoid abdomen, amniotic fluid, short bowel, short gut, atresia, umbilical cord, fetus, ultrasound, newborn, prenatal diagnosis, amnioinfusion
Beckwith-Wiedemann Syndrome (BWS): DNA ANALYSIS beckwithwiedemann syndrome (BWS) Genetic Analysis Suspected diagnosis ofa congenital overgrowth syndrome with at least two of the following symptoms 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 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. Approx. 66% of patients in our BWS Registry have mutations and exhibit abnormal methylation patterns at Lit1, H19, or both of these sites. Confirmation of uniparental disomy (UPD) with microsatellite markers is also performed upon detection of abnormal methylation at both sites.
Beckwith Wiedemann Syndrome Beckwith Wiedemann Syndrome. Synonyms Disorder Subdivisions General DiscussionResources beckwithwiedemann syndrome (BWS) is a rare genetic disorder. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord52
Beckwith-Wiedemann Syndrome - FISH Analysis The Kleberg Cytogenetics Laboratory offers a fluorescence in situhybridization (FISH)based assay for identifying the duplication on 11p15.5 associated http://www.bcmgeneticlabs.org/tests/cyto/beckwith.html
Extractions: Beckwith-Wiedemann is an overgrowth syndrome characterized by macrosomia, macroglossia (large tongue), omphalocele, neonatal hypoglycemia and ear creases. Individuals with Beckwith-Wiedemann syndrome are at increased risk for certain tumors such as Wilms tumor and neuroblastoma. Reasons for Referral: Patients with clinical features suggestive of Beckwith-Wiedemann syndrome may be tested for a duplication of 11p15.5 by FISH simultaneously with high-resolution chromosomal analysis (if not previously performed). Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and has been shown to have a duplication detectable by FISH. Please call regarding all prenatal samples.
National Cancer Institute - Dictionary Of Cancer Terms defects of the abdominal wall near the navel. beckwithwiedemann syndromeincreases the risk of developing certain cancers, especially Wilmsâ tumor. http://www.cancer.gov/Templates/db_alpha.aspx?CdrID=304689
Penn State Faculty Research Expertise Database (FRED) , A syndrome of multiple defects Beckwith Wiedemann Syndrome, Exomphalos Macroglossia Gigantism Syndromebeckwithwiedemann syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D001506
Beckwith-Wiedemann Syndrome Our Grandaughter was born on 19 June 2000 with beckwithwiedemann syndrome.Can you tell us about this syndrome or where we could get some information on http://www.nurseminerva.co.uk/beckwith.htm
Extractions: question received Our Grandaughter was born on 19 June 2000 with Beckwith-Wiedemann Syndrome. Can you tell us about this syndrome or where we could get some information on this subject. In particular, prognosis and care for children with this problem. response Our Grandaughter was born on 19 June 2000 with Beckwith-Wiedemann Syndrome. Can you tell us about this syndrome or where we could get some information on this subject. In particular, prognosis and care for children with this problem. th June 2000 Beckwith-Wiedemann Syndrome (BWS) - also called the Wiedemann-Beckwith Syndrome (WBS) and the Exomphalos-Macroglossia-Gigantism (EMG) syndrome The Beckwith-Wiedemann Syndrome Support Network at www.beckwith-wiedemann.org/ provides much useful information and encouragement for all those who want to know about this syndrome. On the website, Dr Beckwith explains that the long-term outlook is very good, with BWS children growing up to be normal in appearance and intelligence. He encourages parents to view their children, not as "syndrome babies", but as children with individuality just like any other children. Some of the features that make babies with BWS appear distinctive may need to be corrected, such as the occasional case where the tongue is so large it requires surgery. He also recommends an ultrasound examination of the abdomen every 3 months, since there can be a greater risk of tumour development up to about the age of 8 years - early detection enables suitable and effective treatment.
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.
