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         Beckwith-wiedemann Syndrome:     more detail
  1. Beckwith-Wiedemann syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Renee, MS Laux, 2005
  2. Section on Surgery. (Abstracts of Scientific Posters).(a discussion of a case of a patient with Beckwith-Wiedemann Syndrome): An article from: Southern Medical Journal
  3. Living with Beckwith-Wiedemann Syndrome (SuDoc HE 20.3152:B 38) by Nancy Weissman, 2001

1. MEDLINEplus Medical Encyclopedia: Beckwith-Wiedemann Syndrome
A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence Category Health Conditions and Diseases beckwith-wiedemann syndrome......beckwithwiedemann syndrome. The cause of beckwith-wiedemann syndromeis unknown, but it appears to be genetic. Some cases may be
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Beckwith-Wiedemann syndrome
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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)

Pediatric Database (PEDBASE); Discipline GEN; Last Updated 6/14/94beckwithwiedemann syndrome. DEFINITION A syndrome characterized
  • Pediatric Database (PEDBASE)
  • Discipline: GEN
  • Last Updated: 6/14/94
    A syndrome characterized by neonatal hypoglycemia and dysmorphic features including macroglossia, macrosomia, visceromegaly, omphalocele, and distinctive ear anomalies.
    • incidence: ?
    • age of onset:
      • newborn (hypoglycemia)
    • risk factors:
      • familial - sporadic mutation (in 85% of cases)
        • chrom.#: 11pter-p15.4
        • gene: ?
      • M = F
      1. Background
      • etiology unknown
      • neonatal abnormalities such as prematurity, polyhydramnios, dysmorphic features, macrosomia suggest a prenatal etiology - excessive growth rate often slows down after the first few years
      2. Genetic Defect
      • the gene for insulin-like growth factor II is found within the 11pter-p15.4 region and may be responsible for:
      1. Cellular Hyperplasia
      1. Pancreatic
      • pancreatic islet hyperplasia (nesidioblastosis)
      • microcephaly and retarded brain development may occur independent of hypoglycemia
      2. Visceromegaly
    • 3. Gonads
      • gonadal interstitial cell hyperplasia (in males)
      4. Pituitary
  • 3. The Contact A Family Directory - BECKWITH-WIEDEMANN SYNDROME
    A description of beckwithwiedemann syndrome, features, and possible complications. Also information about a support group.
    printer friendly BECKWITH-WIEDEMANN SYNDROME home more about us in your area conditions information ... how you can help search this site 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
    Only a minority of cases are familial but inheritance is complex. Families should be seen by a clinical geneticist. Pre-natal diagnosis
    No specific diagnosis possible, ultrasound screening may be helpful. Medical Text last updated August 2001 by Professor E R Maher, Professor of Medical Genetics, Department of Paediatrics and Child Health, University of Birmingham Medical School, Birmingham, UK.

    4. Beckwith-Wiedemann Syndrome - Genetics An Overview A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors.
    Cancer Genetics Web
    Beckwith-Wiedemann syndrome
    Mutated Genes and Abnormal Protein Expression
    Genetics of Beckwith-Wiedemann syndrome and Related Tumours
    Cancer Risk in Beckwith-Wiedemann syndrome
    Screening for Wilms' Tumour in Beckwith-Wiedemann
    Mutated Genes and Abnormal Protein Expression Gene Location Topics CDKN1C Mutations in Beckwith-Wiedemann syndrome
    IGF2 and Beckwith-Wiedemann syndrome.

    Genetics of Beckwith-Wiedemann syndrome and Related Tumours
  • Maher ER, Reik W Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest 2000 Feb;105(3):247-52 Related articles
  • Steenman M, et al. Genetics of Beckwith-Wiedemann syndrome-associated tumors: common genetic pathways. Genes Chromosomes Cancer 2000 May;28(1):1-13 Related articles (PubMed)
  • Li M, et al. Molecular genetics of Wiedemann-Beckwith syndrome. Am J Med Genet 1998 Oct 2;79(4):253-9 Related articles (PubMed)
  • Medline Search: Beckwith-Wiedemann syndrome AND genetics (PubMed) Limit search to: [Last Year] Limit search to: [Last 2 Years] Limit search to: [Reviews]
    Related Resources
  • Beckwith-Wiedemann syndrome (OMIM)
  • Wilms' Tumour Genetics
  • Cancer Risk in Beckwith-Wiedemann syndrome
  • DeBaun MR, Tucker MA
  • 5. Beckwith-Wiedemann Syndrome
    Beckwith Wiedemann, Syndrome. Menu général CISMeF
    Beckwith-Wiedemann Syndrome
    Beckwith-Wiedemann Support Network (BWSN)
    2711 Colony Rd. Ann Arbor, MI 48104 Phone: 734-973-0263 Fax: (734) 973-9721 Parent hotline: 800-837-2976 E-mail:
    Web Site: Also serves families with Simpson-Golabi-Behmel syndrome
    Also See: Revised October 30, 2001
    Genetic Societies
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    Genetics Education Center
    Debra Collins, M.S. CGC
    , Genetic Counselor,
    This site subscribes to the principles of the HONcode
    (Health on the Net, Code of Conduct for Medical and Health Web Sites)
    of the Health On the Net Foundation

    6. Beckwith-Wiedemann Syndrome - Keep Kids Healthy
    A discussion of beckwithwiedemann syndrome, its features and treatments.


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    Beckwith-Wiedemann syndrome
    Related Articles Microcephaly Internet Links About Pediatrics 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.

    7. Beckwith
    These large, lobulated adrenals arose in a case of beckwithwiedemann syndrome. beckwith-wiedemann syndrome. view 76 KB version
    Beckwith-Wiedemann syndrome
    view 76 KB version These large, lobulated adrenals arose in a case of Beckwith-Wiedemann syndrome. Other abnormalities seen with this rare syndrome include linear fissure of the external ear lobule, macroglossia, hemihypertrophy, genital tract abnormalities, omphalocele, and microcephaly, among others.
    view 115 KB version
    The large cells with large, bizarre nuclei represent adrenal cytomegaly of the fetal cortex. This occurs with Beckwith-Wiedemann syndrome. It may uncommonly occur as a focal incidental finding. Examinations Photographs Movies Links ... noJava Home

    8. BWSN Beckwith-Wiedemann Syndrome
    Information about this organization, created for parents, professionals, and others interested in this disease. An invitation to join an email support group.

    9. OMIM ENTRY 130650
    a CHORUS notecard document about beckwithwiedemann syndrome beckwith-wiedemann syndrome. big tongue. organomegaly (liver, kidneys, pancreas, heart)

    10. Beckwith-Wiedemann Syndrome (BW, BWS)
    weckwith-wiedemann syndrome, a list of synonyms, a summary and a major features.Category Health Conditions and Diseases beckwith-wiedemann syndrome......View the Full Record Syndrome, beckwithwiedemann syndrome (BW, BWS). Synonyms,Beckwith syndrome. Wiedemann syndrome. Wiedemann-Beckwith syndrome (WBS).
    Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
    View the Full Record
    Syndrome Beckwith-Wiedemann syndrome (BW, BWS) Synonyms Beckwith syndrome Wiedemann syndrome Wiedemann-Beckwith syndrome (WBS) Wiedemann-Beckwith-Combs syndrome exomphalos-macroglossia-gigantism (EMG) syndrome familial macroglossia-omphalocele syndrome macroglossia-omphalocele syndrome macroglossia-omphalocele-visceromegaly syndrome Summary Enlarged tongue, omphalocele and other umbilical abnormalities, cytomegaly of the adrenal cortex, hyperplasia of gonadal interstitial cells, renal hyperplasia with medullary dysplasia, pancreatic hyperplasia, visceromegaly, and hypoglycemia with various neoplastic diseases and other disorders. Major Features Head and neck: Mild microcephaly, maxillary hypoplasia with relative prognathism, are common, and facial nevus flammeus. are the most common symptoms. Low-frequency anomalies include persistent anterior fontanelles and metopic ridge. Ears: Asymmetric earlobes with pits. Mouth and oral structures: Macroglossia is a common feature at birth. It tends to gradually regress with eventual accommodation of the tongue in the oral cavity. Low frequency abnormalities may include cleft palate and submucous clefts.

    11. Beckwith-Wiedemann Syndrome
    (Pavham DM, editor. Pediatric Neoplasia, Morphology, and Biology, Lippincott, 1996. Child with beckwithwiedemann syndrome showing macroglossia, hemihypertrophy (right side bigger than left) and organomegaly.
    (Pavham DM, editor. Pediatric Neoplasia, Morphology, and Biology , Lippincott, 1996. p. 46.) Beckwith-Wiedemann Syndrome
    Child with Beckwith-Wiedemann Syndrome showing macroglossia, hemihypertrophy (right side bigger than left) and organomegaly. These children have an increased risk for the development of certain childhood tumors, especially Wilms' Tumor and hypatoblastoma.

    Return to Systemic Pathology Page

    12. Beckwith
    Beckwith Wiedemann Syndrome beckwithwiedemann syndrome (BWS) is a commongenetic overgrowth syndrome that is associated with visceromegaly
    Beckwith Wiedemann Syndrome
    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).

    13. Beckwith-Wiedemann Syndrome
    beckwithwiedemann syndrome. big tongue; organomegaly (liver, kidneys, pancreas,heart). a/w Wilms tumor. More info beckwith-wiedemann syndrome OMIM
    CHORUS Collaborative Hypertext of Radiology Multisystem entities

    Beckwith-Wiedemann syndrome
    • big tongue
    • organomegaly (liver, kidneys, pancreas, heart)
    • omphalocele, umbilical hernia or diastasis recti
    a/w Wilms tumor More info: Beckwith-Wiedemann syndrome [OMIM] Charles E. Kahn, Jr., MD - 24 November 1995
    Last updated 14 March 2001

    Medical College of Wisconsin

    14. GeneReviews: Beckwith-Wiedemann Syndrome
    Your browser does not support HTML frames so you must view beckwithwiedemann syndromein a slightly less readable form. Please follow this link to do so.
    Your browser does not support HTML frames so you must view Beckwith-Wiedemann Syndrome in a slightly less readable form. Please follow this link to do so.

    15. 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
    The BWSN is a non-profit organization created for parents, professionals, and others interested in the Beckwith-Wiedemann Syndrome.
    For: - conference or clinic information -
    - fundraising -
    - help with insurance/legal issues -
    please contact: Cheryl Hendrickson
    Conferences and Fundraising Coordinator
    Washington State, USA
    email Cheryl Hendrickson
    The Beckwith-Wiedemann Family Forum

    16. Beckwith-Wiedemann Syndrome Family Forum
    The BeckwithWiedemann Family Forum was created as a way for people interested inBWS to get support and share information. Beckwith-Wiedemann Family Forum Q A.
    Photo Show The Beckwith-Wiedemann Family Forum was created as a way for people 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, (2) to provide a forum for interested people to meet on the internet to discuss BWS related issues (3) to let new families affected by BWS know that they are not alone. To find out more about the Beckwith-Wiedemann Family Forum, click on the link below: You are visitor
    Below you will find a link to the Beckwith-Wiedemann Family Chat Forum. 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 in this. This resource is absolutely free. Please join us! Subscribe to bwschat Powered by Please note that in order to access some links from this site (such as the surgeon's database) you will need to register to the above email list and to login to your Yahoo Groups account. If you'd like to visit the discussion group before joining, you can do so by following the link below: Beckwith Wiedemann Family Chat Forum
    web master: this page last modified: We subscribe to the HONcode principles.

    17. HONselect - Beckwith-Wiedemann Syndrome
    English beckwithwiedemann syndrome, - Exomphalos-Macroglossia-Gigantism Syndrome- Wiedemann-Beckwith Syndrome - Beckwith Wiedemann Syndrome - Exomphalos
    List of rare diseases: English Deutsch
    MeSH term:
    Accepted terms:
    English: Beckwith-Wiedemann Syndrome - Exomphalos-Macroglossia-Gigantism Syndrome
    - Wiedemann-Beckwith Syndrome
    - Beckwith Wiedemann Syndrome
    - Exomphalos Macroglossia Gigantism Syndrome
    - Syndrome, Beckwith-Wiedemann
    - Syndrome, Exomphalos-Macroglossia-Gigantism
    Français: BECKWITH WIEDEMANN, SYNDROME Deutsch: Wiedemann-Beckwith-Syndrom - Exomphalos-Makroglossie-Gigantismus-Syndrom - E.M.G.-Syndrom Español: SINDROME DE BECKWITH-WIEDEMANN - SINDROME DE EXONFALO MACROGLOSIA-GIGANTISMO Português: SINDROME DE BECKWITH-WIEDEMANN - SINDROME DE EXONFALIA-MACROGLOSSIA-GIGANTISMO HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter Last modified: Thu Jul 25 2002

    18. EMedicine - Beckwith-Wiedemann Syndrome : Article By Robert J Ferry, Jr, MD
    beckwithwiedemann syndrome. Last Updated March 13, 2002, Over time,this constellation was renamed beckwith-wiedemann syndrome (BWS).
    (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Endocrinology
    Beckwith-Wiedemann Syndrome
    Last Updated: March 13, 2002 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 Director, Assistant Professor, Department of Pediatrics, Division of Endocrinology and Diabetes, The University of Texas Health Science Center at San Antonio Coauthor(s): 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 Editor(s): Phyllis Speiser, MD

    19. EMedicine - Beckwith-Wiedemann Syndrome : Article Excerpt By: Robert J Ferry, Jr
    Excerpt from beckwithwiedemann syndrome. Synonyms Please click hereto view the full topic text beckwith-wiedemann syndrome. Background
    Excerpt from Beckwith-Wiedemann Syndrome
    Synonyms, Key Words, and Related Terms: exomphalos, macroglossia, gigantism syndrome, EMG syndrome, BWS
    Please click here to view the full topic text: Beckwith-Wiedemann Syndrome
    Background: In Germany in 1964, Hans-Rudolf Wiedemann reported a familial form of omphalocele with macroglossia. J Bruce Beckwith at Loma Linda University (Loma Linda, California) described a similar series of patients in 1969. 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, roughly 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 two alleles of a gene are expressed differentially). Authors most often have used the term imprinted to refer to the expressed allele. For example, the maternal allele of band 11p15.5 normally is 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

    20. Kprones BeckwithWiedemannID10037
    beckwithwiedemann syndrome. Identity. Clinical features and natural historyof beckwith-wiedemann syndrome presentation of 74 new cases.
    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Home Genes Leukemias Solid Tumours ... NA
    Beckwith-Wiedemann syndrome
    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

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