Extractions: @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: Beckwith-Wiedemann syndrome Metopic ridge Definition Return to top 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 Causes, incidence, and risk factors Return to top 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)
Extractions: helpful? yes no Beckwith-Wiedemann: Exomphalos-Macroglossia- Gigantism; Neo-natal Hypoglycaemia; Visceromegaly; Hemihypertrophy Features of the syndrome include: macroglossia, a large tongue which may cause breathing, feeding or speech difficulties; umbilical hernia or exomphalos; overgrowth, children are bigger than their contemporaries; hemihypertrophy, one side of the body grows more than the other; hypoglycaemia, low blood sugar as babies; characteristic facial appearance and indentations of the ears. There is an increased risk of tumour development, particularly Wilm's (kidney) tumours and children should be seen regularly to screen for these. Inheritance patterns
Extractions: Beckwith-Wiedemann Syndrome is a very rare condition that is associated with a large body size (macrosomia), large tongue (macroglossia), omphalocele (a type of umbilical hernia), small head (microcephaly), and large body organs (visceromegaly), especially the kidneys and pancreas. Newborns with this condition can also have low blood sugars (hypoglycemia) and high red blood cell counts (polycythemia). Some children will have unusual fissures or creases in their earlobes. Please note that most large babies that have problems with low blood sugar will not have Beckwith-Wiedemann syndrome. The low blood sugar secondary to this syndrome is persistent and difficult to treat.
Beckwith-Wiedemann Support Network The BWSN is a nonprofit organization created for parents, professionals, and others interested in the beckwith-wiedemann syndrome. http://beckwith-wiedemann.org/
Extractions: The major goals of the BWSN are (1) to provide information and peer support to the individuals and families affected by BWS, (2) to increase both public and professional awareness of BWS, and (3) to encourage research aimed at the cause, early detection (including prenatal), and treatment of BWS. The Parents Forum is a website where parents can go to contact other parents on the many topics that come up in the life of a child with Beckwith-Wiedemann Syndrome.
Beckwith-Wiedemann Support Network Information about this organization, created for parents, professionals, and others interested in this disease. An invitation to join an email support group. http://beckwith-wiedemann.org/index.html
Extractions: The major goals of the BWSN are (1) to provide information and peer support to the individuals and families affected by BWS, (2) to increase both public and professional awareness of BWS, and (3) to encourage research aimed at the cause, early detection (including prenatal), and treatment of BWS. The Parents Forum is a website where parents can go to contact other parents on the many topics that come up in the life of a child with Beckwith-Wiedemann Syndrome.
Beckwith-Wiedemann Support Network What is beckwithwiedemann syndrome? beckwith-wiedemann syndrome is an overgrowth disorder. It was first recognized in 1963 by Dr http://beckwith-wiedemann.org/_wsn/page2.html
Extractions: Beckwith-Wiedemann Syndrome is an overgrowth disorder. It was first recognized in 1963 by Dr. J. Bruce Beckwith, a pediatric pathologist who was in training in Los Angeles, California, and by Dr. H. R. Wiedemann, a geneticist working in Kiel, Germany in 1964. Both doctors noted similar characteristics in their patients that were not traceable to other disorders, thereby identifying a new syndrome. The syndrome is usually sporadic, but may be inherited. These children are at risk for developing hypoglycemia and various types of tumors. The clinical picture of this syndrome can vary from mildly to greatly affected. The incidence of BWS has been reported as approximately 1:15,000 births. Exact figures are impossible to estimate, as so many mildly affected cases are not diagnosed. The syndrome is thought to be due to an alteration in the genes of the child. Some cases are thought to occur as new mutations when no other relative has the disorder. Other cases appear to be inherited from a parent; "autosomal dominant inheritance." This means the risk of transmitting the gene from affected parent to an offspring is 50% for each pregnancy. Although the severity to which each child is affected is highly variable, the great majority of persons who carry the gene are only minimally affected. What characteristics help make the diagnosis?
Extractions: "Beckwith-Wiedemann and Related Disorders Victoria" is a contact and information point set up by an individual parent of a child with BWS. Its aim is to offer parents new to Beckwith-Wiedemann Syndrome, particularly those living in Victoria Australia, with information on this uncommon disorder and with links to local resources. Some parents also welcome the opportunity to meet with another family similarly affected and this can also be arranged.
MedlinePlus Medical Encyclopedia: Beckwith-Wiedemann Syndrome Medical Encyclopedia. beckwithwiedemann syndrome. beckwith-wiedemann syndrome in the newborn is a consistent group of findings of http://www.nlm.nih.gov/medlineplus/ency/imagepages/17076.htm
Extractions: @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation 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). Update Date: 1/8/2002 Updated by: A.D.A.M. Medical Illustration Team and J. Gordon Lambert, MD, Associate Medical Director RxRemedy
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Endocrinology Last Updated: May 11, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: exomphalos, macroglossia, gigantism syndrome; EMG syndrome; BWS AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert J Ferry, Jr, MD , Training and Research Director, Assistant Professor, Department of Pediatrics, Division of Endocrinology and Diabetes, The University of Texas Health Science Center at San Antonio Coauthor(s): Michael R DeBaun, MD, MPH , Associate Professor of Pediatrics, Washington University School of Medicine; Consulting Staff, Division of Genetics, Department of Pediatrics, St Louis Children's Hospital 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 Editor(s): Phyllis Speiser, MD
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: exomphalos, macroglossia, gigantism syndrome; EMG syndrome; BWS Background: In 1964, Hans-Rudolf Wiedemann reported a familial form of omphalocele with macroglossia in Germany. In 1969, J. Bruce Beckwith of Loma Linda University, Calif, described a similar series of patients. Originally, Professor Wiedemann coined the term EMG syndrome to describe the combination of congenital exomphalos, macroglossia, and gigantism. Over time, this constellation was renamed Beckwith-Wiedemann syndrome (BWS). Pathophysiology: Although the underlying causes of BWS remain unclear, approximately 80% of BWS patients demonstrate genotypic abnormalities of the distal region of chromosome arm 11p. The BWS region of 11p was the first identified example of imprinting in mammals (ie, the process whereby the 2 alleles of a gene are expressed differentially). Authors have most often used the term imprinted to refer to the expressed allele. For example, the maternal allele of band 11p15.5 is normally expressed, or imprinted. Some authors, however, define the silent allele as imprinted. While reviewing the literature, the reader must bear in mind this inconsistent and confusing nomenclature. Imprinting has been associated with structural modifications of DNA near the gene, such as methylation or lack of acetylation. Several 11p genes are imprinted, including
Beckwith Beckwith Wiedemann Syndrome beckwithwiedemann syndrome (BWS) is a common genetic overgrowth syndrome that is associated with visceromegaly http://home.coqui.net/myrna/beck.htm
Extractions: Beckwith-Wiedemann syndrome (BWS) is a common genetic overgrowth syndrome that is associated with visceromegaly, macroglossia, abdominal wall defects, pre- and postnatal overgrowth, and neonatal hypoglycemia. Exomphalos, macroglossia, and gigantism, are considered the characteristic diagnostic triad of findings; due to this it is also known as EMG-syndrome. Other distinctive features include earlobe creases and pits, facial nevus flammeus, and prominent eyes with infraorbital creases. Recognition of BWS is important because of the associated risk for development of embryonal neoplasms affecting abdominal organs, the need for prompt treatment of neonatal hypoglycemia, and for purposes of genetic counseling. The primary care physician can provide a major source of support for the family. It is important to emphasize that most infants with BWS grow up to become relatively normal adults. GENETICS AND ETIOLOGY Although most cases appear to be sporadic (85%), the etiology of BWS is generally accepted as genetic. Since the clinical findings vary widely and tend to become less obvious with age, the syndrome may be overlooked in adults, thus tending to mask familial inheritance among some previously reported cases. Present evidence supports autosomal dominant inheritance of BWS, with reduced penetrance and variable expressivity that may relate to the effects of genomic imprinting. (Imprinting is defined as the differential expression of genetic material, at either a chromosomal or an allelic level, depending on whether the genetic material has been inherited from the mother or the father).
Beckwith-Wiedemann Syndrome beckwithwiedemann syndrome. Beckwith Wiedemann Syndrome Information, Biochemistry and Molecular Biology, Pennsylvania State University; http://www.kumc.edu/gec/support/beckwith.html
GeneReviews: Beckwith-Wiedemann Syndrome Your browser does not support HTML frames so you must view beckwithwiedemann syndrome in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/bws
Beckwith-Wiedemann Syndrome Seattle. beckwithwiedemann syndrome. BWS, EMG Table 1. Molecular Genetic Testing Used in beckwith-wiedemann syndrome. Test Method. Mutations http://www.geneclinics.org/profiles/bws/details.html
Extractions: 10 April 2003 Disease characteristics. Beckwith-Wiedemann syndrome (BWS) is a disorder of growth characterized by macrosomia (large body size), macroglossia, visceromegaly, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma), omphalocele, neonatal hypoglycemia, and ear creases/pits. Diagnosis/testing. The diagnosis of Beckwith-Wiedemann syndrome relies primarily on clinical findings. Chromosome abnormalities involving 11p15 are found in 1% or less of cases. Clinically available molecular genetic testing can identify several different types of 11p15 abnormalities in patients with BWS: in 50% of patients, loss of methylation at is observed; in 10-20% of patients, paternal uniparental disomy for chromosome 11p15 is observed. Research testing reveals
The Beckwith-Wiedemann Support Network Web Site The BWSN is a nonprofit organization created for parents, professionals, and others interested in the beckwith-wiedemann syndrome. For http://www.geocities.com/bwsn/
Beckwith-Wiedemann Syndrome Family Forum The BeckwithWiedemann Family Forum was created as a way for people from around the world who are interested in BWS to get support and share information. http://www.geocities.com/beckwith_wiedemann/
Extractions: Click here to see our entire Photo Show Please Note: if you are unable to view buttons, photo shows and menus on these pages, you may need to update your browser to enable java scripts. To do so, you can download free software at: http://www.java.com/en/index.jsp The Beckwith-Wiedemann Family Forum was created as a way for people from around the world who are interested in BWS to get support and share information. The major goals of the Beckwith-Wiedemann Family Forum are (1) to provide a place where people interested in BWS can find information quickly in a variety of languages, (2) to provide a forum for interested people to meet on the internet to discuss BWS related issues (3) to let new families everywhere affected by BWS know that they are not alone. To find out more about the Beckwith-Wiedemann Family Forum and it's function, click on the link below: Beckwith-Wiedemann Family Forum policies You are visitor Our site in other languages: Français Deutsch Italiano Romanian ... ñol Below you will find a link to the Beckwith-Wiedemann Family Chat Forum - owned and moderated by 3 mothers of children with BWS and with hundreds of members from around the world. There you can contact other families who are dealing with BWS. The support and information these families can give is extremely helpful to families who need to know they aren't alone. This resource is absolutely free. Please join!
AllRefer Health - Beckwith-Wiedemann Syndrome beckwithwiedemann syndrome. Overview, Causes, Risk Factors. The cause of beckwith-wiedemann syndrome is unknown, but it appears to be genetic. http://health.allrefer.com/health/beckwith-wiedemann-syndrome-info.html
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 Go To Main Page 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
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 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
Extractions: Web Directory: Adam.com: An Overview A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors. Beckwith-Wiedemann and Related Disorders Victoria Information resource for families affected by the overgrowth disorders Beckwith-Wiedemann Syndrome, Simpson-Golabi-Behmel Syndrome or Isolated Hemihypertrophy.
