Extractions: Preconception Pregnancy Baby ... Chromosome disorders "Beckwith-Wiedemann Syndrome..." Posts: Last Post: May 6, 2004, 12:43 PM (PDT) JOIN IN: See all Boards Create a new thread Add a message WATCHES: My watches Start watching this thread HOW TO: Getting started Community Guidelines Back to Chromosome disorders Messages First Last Author: Lemony May 5, 2004 , 2:09 PM (PDT) Yay! We finally have a board for chromosomal disorders. It's about time! Most children with BWS are born with enlarged tongues and crimped ears, but my son didn't have any outward physical symptoms. The only sign he had was large abdominal cysts which were found in utero by u/s. They have since disappeared on their own. David shows a bit of hemi-hypertrophy (one entire side of his body grows a little larger and faster than the other side), but it is barely noticeable too.
Health Library - Beckwith Wiedemann Syndrome. Synonyms Disorder Subdivisions General Discussion Resources beckwithwiedemann syndrome (BWS) is a rare genetic disorder. http://myhealth.barnesjewish.org/library/healthguide/illnessconditions/topic.asp
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.
Health Library - Beckwith Wiedemann Syndrome. Synonyms Disorder Subdivisions General Discussion Resources beckwithwiedemann syndrome (BWS) is a rare genetic disorder. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
Extractions: Beckwith-Wiedemann Syndrome,BWS,Beckwith Wiedemann Syndrome,Beckwith-Syndrome,EMG Syndrome,Exomphalos-Macroglossia-Gigantism Syndrome Hypoglycemia with Macroglossia,Macroglossia-Omphalocele-Visceromegaly Syndrome,Omphalocele-Visceromegaly-Macroglossia Syndrome,Visceromegaly-Umbilical Hernia-Macroglossia Syndrome,Wiedmann-Beckwith Syndrome For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX
Genetic Disorders: Beckwith-Wiedemann Syndrome Genetic Disorders beckwithwiedemann syndrome. in their locality. BWSN beckwith-wiedemann syndrome. Information about this organization http://www.puredirectory.com/Health/Conditions-and-Diseases/Genetic-Disorders/Be
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Conditions And Diseases - Beckwith-Wiedemann Syndrome Top Links beckwithwiedemann syndrome Web Site Links. The CaF Directory - A description of beckwith-wiedemann syndrome, features, and possible complications. http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso
Extractions: Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Beckwith-Wiedemann Syndrome Web Site Links 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.
Kprones BeckwithWiedemannID10037 beckwithwiedemann syndrome. Identity. Clinical features and natural history of beckwith-wiedemann syndrome presentation of 74 new cases. 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: document.write(lday + ", " +lmonth + " " + date + ", " + year ) A rare, overgrowth disorder in which babies are large at birth and may develop low blood sugar. Other common symptoms are a large tongue, large internal organs, and defects of the abdominal wall near the navel. Beckwith-Wiedemann syndrome increases the risk of developing certain cancers, especially Wilms tumor. A B C ... Z Information and definitions of the medical conditions and diseases have been taken from various reliable government publications and we have done our best to verify their accuracy. If you feel any of the definitions are incorrect or needs to be updated please contact us and we will look into it. Contact Health Dictionary - Medical and Disease Terms and Definitions
NCI: Beckwith-Wiedemann Syndrome beckwithwiedemann syndrome. beckwith-wiedemann syndrome increases the risk of developing certain cancers, especially Wilms tumor. http://www.jamesline.com/patientsandpublic/cancertypes/glossary/index.cfm?action
BrainTalk Communities - Beckwith-Wiedemann Syndrome 1. 0311-2004, 1042 PM. ~Pansy~. Community Member. Join Date Mar 2004. Posts 62. beckwith-wiedemann syndrome. Beckwith-Wiedemann Support Network. Reply With Quote. http://brain.hastypastry.net/forums/showthread.php?t=167
BrainTalk Communities - Beckwith-Wiedemann Syndrome 1. 0311-2004, 1042 PM. ~Pansy~. Community Member. Join Date Mar 2004. Posts 64. beckwith-wiedemann syndrome. Beckwith-Wiedemann Support Network. Reply With Quote. http://brain.hastypastry.net/forums/showthread.php?goto=lastpost&t=167
Extractions: Adam.com: An Overview - A definition of beckwith-wiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors. 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. Beckwith-Wiedemann Family Chat Forum - An international email discussion group promoting the exchange of Beckwith-Wiedemann Syndrome (BWS) related information and support. Beckwith-Wiedemann Family Forum - A way for people from around the world who are interested in BWS to get support and share information. Beckwith-Wiedemann Support Group - UK based support group. Offers a database of information and puts parents in contact with others in theirlocality. 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. Keep Kids Healthy - A discussion of beckwith-wiedemann syndrome, its features and treatments.
Beckwith-Wiedemann Syndrome The New Health Directory, Directory, Home Health Conditions and Diseases Genetic Disorders beckwithwiedemann syndrome (5). BWSN http://www.thenewhealthfind.com/Health/ConditionsandDiseases/GeneticDisorders/Be
:: Ez2Find :: Beckwith-Wiedemann Syndrome discussion of beckwithwiedemann syndrome, its features and treatments. URL http//www.keepkidshealthy.com/welcome/conditions/beckwithwiedemann.html; National http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas
Extractions: Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode Guides Beckwith-Wiedemann Syndrome Web Sites Adam.com: An Overview [Site Info] [Translate] [Open New Window] Beckwith-Wiedemann and Related Disorders Victoria [Site Info] [Translate] [Open New Window] Information resource for families affected by the overgrowth disorders Beckwith-Wiedemann Syndrome, Simpson-Golabi-Behmel Syndrome or Isolated Hemihypertrophy. URL: http://www.geocities.com/bwsandsgbs/BARDVicindex.html