1. MedlinePlus Medical Encyclopedia: Beckwith-Wiedemann Syndrome A definition of beckwithwiedemann syndrome, along with a look at the alternatenames, causes, incidence and risk factors. http://www.nlm.nih.gov/medlineplus/ency/article/001186.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Beckwith-Wiedemann syndrome Contents of this page: Illustrations Definition Causes, incidence, and risk factors Symptoms ... Prevention Illustrations Beckwith-Wiedemann syndrome Metopic ridge Definition Return to top 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, 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), omphalocele (when present), and an increased rate of

2. BECKWITH-WIEDEMANN SYNDROME : Contact A Family - For Families With Disabled Chil A description of beckwithwiedemann syndrome, features, and possible complications. Also information about a support group. http://www.cafamily.org.uk/Direct/b12.html

printer friendly BECKWITH-WIEDEMANN SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page 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 Only a minority of cases are familial but inheritance is complex. Families should be seen by a clinical geneticist. Prenatal 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.

3. Beckwith-Wiedemann Syndrome - Keep Kids Healthy A discussion of beckwithwiedemann syndrome, its features and treatments. http://www.keepkidshealthy.com/welcome/conditions/beckwithwiedemann.html

Bookstore Site Map Contact Us Help ... What's New? Search this site: Advanced Search Main Menu Useful Tools Index of Topics Pediatric Problems Parenting Tips ... Web Links Online Resources What's New Reviews Growth Charts Online Forums ... Height Calculator Newsletters: Subscribe to get free news, tips and updates. Recommend Us tell a friend about us or email this page to a friend Main Diseases and Conditions 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. Treatment of Beckwith-Wiedemann syndrome includes aggressive treatment of the hypoglycemia. Children should also be regularly monitored for the formation of Wilms tumor and hepatoblastoma, two types of tumors that they are at increased risk of developing. Monitoring is done by checking a blood alpha-fetoprotein level (AFP), liver ultrasound and abdominal ultrasound every 6-12 weeks until the patient is eight years old (up to 3 years old for the AFP checks). Doing the screening tests more than every four months may delay the finding of these fast growing tumors. Another treatment can be a partial glossectomy to surgically reduce the size of the tongue.

4. Beckwith beckwithwiedemann syndrome (BWS) is a common genetic overgrowth syndrome thatis associated with visceromegaly, macroglossia, abdominal wall defects, http://home.coqui.net/myrna/beck.htm

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).

5. 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

Beckwith-Wiedemann Support Network Web site for BWS links. Official website for the BWSN The BWSN is a non-profit organization created for parents, professionals, and others interested in the Beckwith-Wiedemann Syndrome. 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. It is also where the BWSN maintains contact with the families. The Beckwith-Wiedemann Children's Foundation is a non-profit organization dedicated to increasing the quality of life for those affected by Beckwith-Wiedemann Syndrome. Please follow the link to their web site to learn more about the wonderful things this group does. About BWSN Medical Advisors

6. MedlinePlus Medical Encyclopedia Beckwith-Wiedemann Syndrome A definition of beckwithwiedemann syndrome, along with a look at the alternate names, causes, incidence and risk factors. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Beckwith-Wiedemann Support Network The BWSN provides information and peer support to people and families affectedby beckwithwiedemann syndrome, works to increase public and professional http://beckwith-wiedemann.org/

Beckwith-Wiedemann Support Network Web site for BWS links. Official website for the BWSN The BWSN is a non-profit organization created for parents, professionals, and others interested in the Beckwith-Wiedemann Syndrome. 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. It is also where the BWSN maintains contact with the families. The Beckwith-Wiedemann Children's Foundation is a non-profit organization dedicated to increasing the quality of life for those affected by Beckwith-Wiedemann Syndrome. Please follow the link to their web site to learn more about the wonderful things this group does. About BWSN Medical Advisors

8. BECKWITH-WIEDEMANN AND RELATED DISORDERS VICTORIA : B.A.R.D. VICTORIA Information resource for families affected by the overgrowth disorders beckwithwiedemann syndrome, Simpson-Golabi-Behmel Syndrome or Isolated Hemihypertrophy. http://www.geocities.com/bwsandsgbs/BARDVicindex.html

BECKWITH-WIEDEMANN AND RELATED DISORDERS VICTORIA : B.A.R.D. VICTORIA B.A.R.D. VICTORIA 4 CROUCH COURT DONCASTER VICTORIA 3108. TEL. 03 98485745 "Beckwith-Wiedemann and Related Disorders Victoria" is a contact and information point set up by a parent whose background is in paediatric nursing. 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. As the medical issues surrounding Simpson-Golabi-Behmel Syndrome and Isolated Hemihyperplasia are similar to those of BWS, parents of children with these disorders may also benefit from using this contact point. Telephone contact from families is always welcome at the number above. Brenda Lawless Fearon Updated: 1st October 2004 Linked to: BARDVictoria@Yahoo groups My Info: Name: B.A.R.D. Victoria Email: Please contact by phone or letter post.

9. Beckwith-Wiedemann Syndrome (BW, BWS) Syndrome beckwithwiedemann syndrome (BW, BWS) Synonyms. Beckwith syndrome. Wiedemann syndrome. Wiedemann-Beckwith syndrome (WBS) http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Beckwith-Wiedemann Support Network beckwithwiedemann syndrome is an overgrowth disorder. It was first recognizedin 1963 by Dr. J. Bruce Beckwith, a pediatric pathologist who was in training http://beckwith-wiedemann.org/_wsn/page2.html

Beckwith-Wiedemann Support Network Web site for BWS links. What is Beckwith-Wiedemann Syndrome? 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. What causes BWS? 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?

11. Beckwith-Wiedemann Support Network The BWSN provides information and peer support to people and families affected by beckwithwiedemann syndrome, works to increase public and http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. BECKWITH-WIEDEMANN SYNDROME Contact A Family - For Families With A description of beckwithwiedemann syndrome, features, and possible complications. Also information about a support group. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Beckwith-W eMedicine beckwith-wiedemann syndrome Article by Robert J beckwith-wiedemann syndrome - In 1964, Hans-Rudolf Wiedemann reported a familialform of omphalocele with macroglossia in Germany. http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Beckwith-Wiedemann Syndrome

14. Q A About Beckwith-Wiedemann Syndrome, Cancer Facts 3.67 Questions and Answers About Living With beckwithwiedemann syndrome What is beckwith-wiedemann syndrome (BWS)? http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Beckwith-Wiedemann Syndrome BeckwithWiedemann information, national and international support groups, clinicswith genetic counselors and geneticists. http://www.kumc.edu/gec/support/beckwith.html

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: a800bwsn@aol.com Web Site: http://www.beckwith-wiedemann.org Also serves families with Simpson-Golabi-Behmel syndrome Also See: National organizations information on genetic conditions or birth defects Beckwith-Wiedemann Syndrome , OMIM Beckwith Wiedemann Syndrome e-mail list by several parents Revised September 30, 2004 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu 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

16. Beckwith beckwithwiedemann syndrome (BWS) is a common genetic overgrowth syndrome that is associated with visceromegaly, macroglossia, abdominal wall http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. GeneReviews: Beckwith-Wiedemann Syndrome Your browser does not support HTML frames so you must view BeckwithWiedemannSyndrome in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/bws

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.

18. Beckwith-Wiedemann Syndrome beckwithwiedemann syndrome Wiedemann-Beckwith Syndrome Authors http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Beckwith-Wiedemann Syndrome beckwithwiedemann syndrome (BWS) is a disorder of growth characterized by macrosomia The diagnosis of beckwith-wiedemann syndrome relies primarily on http://www.geneclinics.org/profiles/bws/details.html

Beckwith-Wiedemann Syndrome [Wiedemann-Beckwith Syndrome] Authors: Cheryl Shuman, MS, CGC Adam C Smith, MS Rosanna Weksberg, MD, PhD, FRCPC, FCCMG, FACMG About the Authors Initial Posting: 3 March 2000 Last Update 8 September 2005 Summary 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, ear creases/pits, adrenocortical cytomegaly, and renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly). Infants with BWS have an approximately 20% mortality rate, mainly caused by complications of prematurity. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around seven to eight years of age. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues. Diagnosis/testing.

20. Beckwith-Wiedemann Syndrome a CHORUS notecard document about beckwithwiedemann syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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