Extractions: @import url(/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 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
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. 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.
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
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 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. 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
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
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/
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. 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
Extractions: "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.
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
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?
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
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
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
Beckwith-Wiedemann Syndrome BeckwithWiedemann information, national and international support groups, clinicswith genetic counselors and geneticists. http://www.kumc.edu/gec/support/beckwith.html
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
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
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
Extractions: 8 September 2005 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.
Beckwith-Wiedemann Syndrome a CHORUS notecard document about beckwithwiedemann syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
