21. CDKN1C - Cyclin-dependent Kinase Inhibitor 1C (p57, Kip2) - Aka: KIP2, P57 - Can CDKN1C Mutations in beckwithwiedemann syndrome. Lam WW, et al. Related Resourcesbeckwith-wiedemann syndrome Genetics. Return to CDKN1C Contents. http://www.cancerindex.org/geneweb/CDKN1C.htm

Cancer Genetics Web www.cancer genetics.org ; Cyclin-dependent kinase inhibitor 1C (p57, Kip2) (11p15.5) CDKN1C Menu Summary Information - CDKN1C Gene Database Entries for CDKN1C Other CDKN1C Related Resources CDKN1C Expression in Hepatocarcinoma ... Feedback / suggest a new topic for CDKN1C Search: Summary Information CDKN1C; Cyclin-dependent kinase inhibitor 1C (p57, Kip2) Location: Aliases: candidate tumor suppressor gene Return to CDKN1C Contents Gene Database Entries for CDKN1C OMIM GeneCard (Weizmann Institute) Human Gene Mutation Database (Cardiff, UK) Swiss-Prot Locus Link UniGene GenAtlas ... Nomenclature (search for CDKN1C) Return to CDKN1C Contents Other Related Resources Search Medline for related articles (PubMed) Medline Search: cancer AND gene AND (CDKN1C[TI] OR KIP2[TI] OR P57[TI]) (PubMed) Limit search to: [Last Year] Limit search to: [Last 2 Years] Limit search to: [Reviews] Return to CDKN1C Contents CDKN1C Expression in Hepatocarcinoma Schwienbacher C, et al. Gain of imprinting at chromosome 11p15: A pathogenetic mechanism identified in human hepatocarcinomas. Proc Natl Acad Sci USA 2000;97 5445-5449 Related articles (PubMed) Medline Search: hepatocarcinoma AND (cdkn1c OR kip2 OR p57) (PubMed) Limit search to: [Last Year] Limit search to: [Last 2 Years] Limit search to: [Reviews] Related Resources Hepatocelular Carcinoma Genetics Hepatocelular Carcinoma : Clinical and Epidemiological Information Return to CDKN1C Contents CDKN1C Mutations in Beckwith-Wiedemann syndrome

22. Beckwith-Wiedemann / Family Village / Library / The BeckwithWiedemann Support Network provides information and peer support to peopleand families affected by beckwith-wiedemann syndrome, works to increase http://www.familyvillage.wisc.edu/lib_beck.htm

Beckwith-Wiedemann Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Beckwith-Wiedemann" Who to Contact Beckwith-Wiedemann Support Network (BWSN) 2711 Colony Road Ann Arbor, Michigan, USA 48104 (800) 837-2976 Parents Only Fax: (734) 973-9721 Web: http://www.beckwith-wiedemann.org/ The Beckwith-Wiedemann Support Network provides information and peer support to people and families affected by Beckwith-Wiedemann Syndrome, works to increase public and professional awareness and encourages research into the cause, early (including prenatal) detection, and treatment of BWS. BWSN will assist persons who wish to start a support group in their locality and provides parent-to-parent matching by similar situations and /or geographic location. They also try to match families with older children who have BWS with new families, to provide support and encouragement. The Network publishes the Beckwith-Wiedemann Support Network newsletter three times a year, at no cost to members. Members also receive a family directory. BWSN also publishes a brochure, "What is Beckwith-Wiedemann Syndrome?"

23. Beckwith-Wiedemann Syndrome (www.whonamedit.com) beckwithwiedemann syndrome Also known as Beckwith's syndrome Wiedemann’ssyndrome Wiedemann-Beckwith syndrome Wiedemann-Beckwith http://www.whonamedit.com/synd.cfm/1198.html

Home List categories Eponyms A-Z Biographies by country ... Contact Beckwith-Wiedemann syndrome Also known as: Beckwith's syndrome Wiedemann’s syndrome Wiedemann-Beckwith syndrome Wiedemann-Beckwith-Combs syndrome Synonyms: Exophthalmos-macroglossia-gigantism syndrome, familial macroglossia-omphalocele syndrome; macroglossia-omphalocele syndrome, macroglossia-omphalocele-visceromegaly syndrome. Associated persons: John Bruce Beckwith J. T. Combs Hans-Rudolf Wiedemann Description: Main symptoms are gigantism, macroglossia and umbilical abnormalities in newborn, enlarged liver and spleen, hyperplasia of the kidney, congenital abnormalities of the urinary tract, slight microcephaly, clonic seizures, often omphalocele (congenital hernia into the umbilical cord). Elements of congestive heart failure. Some patients develop hemihypertrophy, and there appears to be an increased risk of adrenal carcinoma, Wilm’s tumor, or other intra-abdominal neoplasms. Mental retardation may occur. Etiology unknown. Most cases sporadic, but autosomal dominant inheritance reported. In 1963 Beckwith reported the autopsy findings in three affected children in the preceding year at the annual meeting of the Western Society of Paediatric Residents, Los Angeles. In 1964 he documented two further cases in an abstract, which was read by title at the American Paediatric Society meeting, Seattle. Wiedemann in 1964 described three siblings with a malformation syndrome in which umbilical hernia and enlargement of the tongue were significant features.

24. Hans-Rudolf Wiedemann (www.whonamedit.com) Associated eponyms beckwithwiedemann syndrome A syndrome comprising gigantism,macroglossia and umbilical abnormalities in newborn, enlarged liver and spleen http://www.whonamedit.com/doctor.cfm/1001.html

Home List categories Eponyms A-Z Biographies by country ... Contact Hans-Rudolf Wiedemann German paediatrician, born February 16, 1915, Bremen. Associated eponyms: Beckwith-Wiedemann syndrome A syndrome comprising gigantism, macroglossia and umbilical abnormalities in newborn, enlarged liver and spleen, hyperplasia of the kidney, congenital abnormalities of the urinary tract, slight microcephaly, clonic seizures, often omphalocele. Genee-Wiedemann syndrome or disease An extremely rare genetic multiple congenital anomalies syndrome. Maroteaux-Spranger-Wiedemann syndrome A disturbance evident at birth characterized in childhood by dwarfism with normal body length and disproportionately long trunk, especially thorax, and short limbs, narrow chest, prominent joints, limited joint movement. Proteus' syndrome A congenital syndrome characterised by a variety of abnormalities Spranger-Wiedemann syndrome A syndrome of disproportionate dwarfism, short spine, brevicollis, barrel chest, pectus carinatum, genu valgum, flat face, myopia, malar hypoplasia, kyphoscoliosis, and limited joint mobility. Stüve-Wiedemann syndrome A rare disorder characterized by bowing of the long bones, short stature, camptodactyly, respiratory distress, episodes of unexplained hyperthermia, growth and mental retardation.

25. Beckwith-Wiedemann Syndrome beckwithwiedemann syndrome. Child with beckwith-wiedemann syndrome showing macroglossia,hemihypertrophy (right side bigger than left) and organomegaly. http://biomed.brown.edu/Courses/BI280/Lec21/Lec21-E.htm

(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. Previous Return to Systemic Pathology Page

26. Beckwith Wiedemann, Syndrome : Sites Et Documents Francophones Translate this page Beckwith Wiedemann, Syndrome. Arborescence(s) du thesaurus MeSH contenant lemot-clé Beckwith Wiedemann, syndrome beckwith-wiedemann syndrome http://www.chu-rouen.fr/ssf/pathol/beckwithwiedemannsyndrome.html

Beckwith Wiedemann, Syndrome Menu général CISMeF Arborescence(s) Beckwith Wiedemann, syndrome Beckwith-Wiedemann syndrome maladies et malformations congénitales, héréditaires et néonatales Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients 20 janvier 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

27. CMGS-GENETIC ABNORMALITIES IN BECKWITH-WIEDEMANN SYNDROME/16.1.98 MRC PATH 16/1/98 assignment 5.2 David Bonthron. GENETIC ABNORMALITIESIN beckwithwiedemann syndrome (BWS). BWS - a congenital overgrowth http://www.ich.ucl.ac.uk/cmgs/bw.htm

MRC PATH 16/1/98 assignment 5.2 David Bonthron GENETIC ABNORMALITIES IN BECKWITH-WIEDEMANN SYNDROME (BWS) BWS - a congenital overgrowth syndrome Associated features - gigantism, macroglossia, viceromegaly - Developmental abnormalities - Wilms tumour, congenital heart defects, hemihypertrophy Inheritance - may be AD but expressed only in individuals who inherit it from their mother Caused by mutation at 11p15.5. Pathogenesis of the disease - involves deregulation of imprinted genes in the region Genomic imprinting Expression of an allele depends on its parental origin Disease can occur if the normally expressed allele is absent or mutated: Deletion Uniparental disomy - (2 copies from 1 parent) Chromosome rearrangment Mutation which leads to loss of expression Mechanism appears to operate at transcriptional level and involves DNA methylation Clustering of imprinted genes suggests possible signal which can act on several genes Imprint changes as required - tissue specific differences, variation during development, when passing from parent to child. Genes involved in BWS Imprinted gene cluster at 11p15.5 contains at least 3 genes:

28. CMGS-GENOMIC IMPRINTING IN BECKWITH-WIEDEMANN SYNDROME/16.12.97 GENOMIC IMPRINTING IN beckwithwiedemann syndrome. Genomic imprinting,the differential expression of a gene depending upon its parental http://www.ich.ucl.ac.uk/cmgs/bwsimp.htm

GENOMIC IMPRINTING IN BECKWITH-WIEDEMANN SYNDROME 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.

29. Questions And Answers About Living With Beckwith-Wiedemann Syndrome Questions and Answers About Living With beckwithwiedemann syndrome. Get this documentvia a secure connection. 1. What is beckwith-wiedemann syndrome (BWS)? http://www.meb.uni-bonn.de/cancernet/600367.html

"Questions and Answers About Living With Beckwith-Wiedemann Syndrome" is redistributed by University of Bonn, Medical Center Questions and Answers About Living With Beckwith-Wiedemann Syndrome Get this document via a secure connection CancerMail from the National Cancer Institute !!! ATTENTION !!! The National Cancer Institute (NCI) has updated its cancer information delivery services. In the future, please use the Cancer.gov web site ( Http: //cancer.gov/ ) to meet your cancer information needs. CancerMail users in the United States can obtain cancer information by telephone at 1-800-4-CANCER (1-800-422-6237). The NCI will no longer support CancerMail after November 2002. If you have comments about the NCI's cancer information delivery services, contact us by e-mail at cancer.govstaff@mail.nih.gov or call 301-496-9096. CANCER FACTS National Cancer Institute National Institutes of Health What is Beckwith-Wiedemann Syndrome (BWS)? Beckwith-Wiedemann Syndrome (BWS) is a rare overgrowth syndrome that occurs in approximately 1 in every 15,000 births. A small number of infants and children with BWS develop cancer. Most children have only a few of the many distinct characteristics of the syndrome. The most common characteristics, which can range from mild to severe, are:

30. 1Up Health > Beckwith-Wiedemann Syndrome > Causes, Incidence, And Risk Factors O 1Up Health Diseases Conditions BeckwithWiedemannsyndrome Causes, Incidence, and Risk Factors. http://www.1uphealth.com/health/beckwith_wiedemann_syndrome_info.html

1Up Health Beckwith-Wiedemann syndrome Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Beckwith-Wiedemann syndrome Information Beckwith-Wiedemann syndrome Causes, Incidence, and Risk Factors 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 Causes, Incidence, and Risk Factors 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

31. 1Up Health > Beckwith-Wiedemann Syndrome Information 1Up Health Diseases Conditions beckwithwiedemann syndrome. - Diseases Conditions . beckwith-wiedemann syndrome Information. Guide. Definition http://www.1uphealth.com/health/beckwith_wiedemann_syndrome.html

1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Beckwith-Wiedemann syndrome Information Guide 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 Jump to a Section of this Guide Definition Causes, Incidence, and Risk Factors Symptoms Prevention ... Calling your Health Care Provider Related Tools and Utilities Search Books on Amazon: Read Articles on eLibrary: Health Products on drugstore.com: Cushing's syndrome - adrenal tumor Diastasis recti Hypoglycemia Omphalocele ... More More Topics Anterior Chromosome Etiology Fatigue ... More Search 1Up Health A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial reviewers . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch). Home Contact Us Privacy Links Directory

32. BENCHMARK Analysis Of Beckwith-Wiedemann Syndrome Translate this page BENCHMARK analysis of beckwith-wiedemann syndrome, G2D Home. GO TO The numberindicates the strength of association to beckwith-wiedemann syndrome. http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U702

33. Health Library - Beckwith Wiedemann Syndrome Beckwith Wiedemann Syndrome. Synonyms Disorder Subdivisions General DiscussionResources beckwithwiedemann syndrome (BWS) is a rare genetic disorder. http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h

34. Beckwith Wiedemann Syndrome beckwithwiedemann syndrome. In Buyse ML, ed. Birth Defects Encyclopedia. Beckwith-Wiedemannsyndrome EMG (exomphalos-macroglossia-gigantism) syndrome. http://ibis-birthdefects.org/start/ukrainian/ubeckwit.htm

Please set browser to encoding in cyrillic) [EMG (åêçîìôàëîñ-ìàêðîãëîñ³ÿ-ã³ãàíòèçì) ñèíäðîì; ³äåìàíà-Áåêâ³òà ñèíäðîì] "В новинах" ÁÂÑ - ïðèêëàä ³ìïðèíòèíãó ó ëþäèíè. ³í ìîæå áóòè ñïðè÷èíåíèé dup 11p15 áàòüê³âñüêîãî ïîõîäæåííÿ, áàòüê³âñüêîþ (óí³ïàðåíòàëüíîþ) äèñî쳺þ ðåã³îíó 11ð15.5 àáî çìåíøåíèì ³ìïðèíòóâàííÿì ìàòåðèíñüêîãî àëåëÿ (ãåíè, ùî ìîæóòü â³ä³ãðàâàòè ðîëü - IGF-2, H-19, KVLQT-1, P 57k1p2). Îñê³ëüêè äóïë³êîâàíèé ðåã³îí ì³ñòèòü ëîêóñ ³íñóë³íó, ³íñóë³íîïîä³áíîãî ðîñòîâîãî ôàêòîðà-2 (IGF-2), öå íàøòîâõóº íà äóìêó, ùî îñíîâí³ ïðîÿâè ÁÂÑ ìîæóòü áóòè ñïðè÷èíåí³ íàäëèøêîì îäíîãî àáî îáîõ. Êð³ì òîãî, áóëî âñòàíîâëåíî, ùî ãåí ³íñóë³íó ³ ñ-Íà-ras-1 îíêîãåí òàêîæ çíàõîäÿòüñÿ íà êîðîòêîìó ïëå÷³ õðîìîñîìè 11. Íåçáàëàíñîâàíà ê³ëüê³ñòü ìàòåðèíñüêèõ ³ áàòüê³âñüêèõ àëåëåé ìîæå áóòè çàãàëüíèì ôàêòîðîì â ð³çíèõ åò³îëîã³÷íèõ ôîðìàõ ÁÂÑ ³ àñîö³éîâàíèõ ç íèì ïóõëèíàõ. Best LG. Familial posterior helical ear pits and Wiedeman-Beckwith syndrome. American Journal of Medical Genetics 1991;40:188-195. Butler MG. Beckwith-Wiedemann Syndrome. In: Buyse ML, ed. Birth Defects Encyclopedia. Dover: Center for Birth Defects Information Services, Inc., 1990:218-219.

35. ORPHANET® : Beckwith-Wiedemann Syndrome beckwithwiedemann syndrome. Direct access to details Alias Exomphalos-macroglossia-gigantismsyndrome,Wiedemann-Beckwith syndrome. Home Page. http://www.orpha.net/static/GB/beckwith_wiedemann.html

ORPHANET database access Beckwith-Wiedemann syndrome Direct access to details Alias : Home Page

36. Beckwith-Wiedemann Syndrome (BWS): DNA ANALYSIS beckwithwiedemann syndrome (BWS) Genetic Analysis. Indications for MolecularTesting for BWS. · Suspected diagnosis of a child with BWS. http://www.surgery.wustl.edu/bjcmdl/BWS.htm

Beckwith-Wiedemann Syndrome (BWS): Genetic Analysis Indications for Molecular Testing for BWS Suspected diagnosis of a child with BWS Suspected diagnosis of a congenital overgrowth syndrome with at least two of the following symptoms present: th % corrected for gestational age) macroglossia abdominal wall defects neonatal hypoglycemia ear creases/pits BWS DNA Analysis AIM: To provide molecular detection of methylation abnormalities of H19 and/or LIT1 or UPD of 11p15 both LIT1 and H19 associated with diagnosis of BWS. Interpretation of DNA analysis Direct mutation testing involves determination of restriction fragment sizes and methylation status following BamH1 + Not1 (Lit1) or Pst1 + Sma1 (H19) digestion and genomic Southern hybridization with Lit1 or H19 probes, respectively. Unmethylated, expressed regions are digested with Not1 or Sma1. Normal Lit1 gene expression occurs from the paternal allele with methylation of the maternal allele. Normal H19 expression occurs from the maternal allele with methylation of the paternal allele. Individuals with BWS and specific mutations exhibit unbalanced DNA patterns for one or both of these genetic regions. Confirmation of uniparental disomy (UPD) with microsatellite markers is also performed upon abnormal methylation of both LIT1 and H19.

37. Beckwith-Wiedemann Syndrome: Ascertainment Of The Genetic Causes, Uniparental Di beckwithwiedemann syndrome ascertainment of the genetic causes, uniparentaldisomy, duplications, abnormal methylation patterns at LIT1, H19 or IGF2. http://www.research-projects.unizh.ch/med/unit42200/area313/p2311.htm

research project Beckwith-Wiedemann syndrome: ascertainment of the genetic causes, uniparental disomy, duplications, abnormal methylation patterns at LIT1, H19 or IGF2. Molecular genetic and clinical investigations of more than 100 patients. Contacts Prof. A. Schinzel (Project Leader) schinzel@medgen.unizh.ch Dr. A. Baumer (Project Leader) baumer@medgen.unizh.ch Supported By SNF Last Update Responsible Project Leader: Prof. A. Schinzel, Dr. A. Baumer Professor or Research Area Leader: Prof. Dr. Albert Schinzel Institute or Clinic: Faculty: Use the Eurospider retrieval system to find similar projects Use the Eurospider retrieval system to search the research report For authorized person(s) only Comments to uni research page generation 06.03.2003

38. Beckwith-Wiedemann Syndrome From Pediatrics / Endocrinology eMedicine Journal Pediatrics Endocrinology beckwithwiedemann syndrome Synonyms,Key Words, and Related Terms exomphalos, macroglossia, gigantism syndrome http://author.emedicine.com/ped/topic218.htm

eMedicine Journal Pediatrics Endocrinology Beckwith-Wiedemann Syndrome Synonyms, Key Words, and Related Terms: exomphalos, macroglossia, gigantism syndrome, EMG syndrome, BWS Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by 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 Coauthored by 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 Edited by Phyllis Speiser, MD , Director, Division of Pediatric Endocrinology, Children's Health Network of North Shore/LIJ Health System, Clinical Professor, Department of Pediatrics, New York University School of Medicine; Robert Konop, PharmD

39. GeneReviews : Beckwith-Wiedemann Syndrome GeneReviews beckwithwiedemann syndrome, Notes for physicians on Beckwith-Wiedemannsyndrome (BWS). beckwith-wiedemann syndrome / genetics. http://omni.ac.uk/whatsnew/detail/4003181.html

Back to whats new page. GeneReviews : Beckwith-Wiedemann syndrome Notes for physicians on Beckwith-Wiedemann syndrome (BWS). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in March 2000, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Beckwith-Wiedemann Syndrome / genetics Last modified 26/Apr/2002 [Low Graphics]

40. Fact Sheet 3.67 Date reviewed 8/28/2000. Questions and Answers About Living With BeckwithWiedemannSyndrome. What is beckwith-wiedemann syndrome (BWS)? http://cis.nci.nih.gov/fact/3_67.htm

Cancer Facts CIS Home Cancer.gov Dictionary Search Date reviewed: 8/28/2000 Questions and Answers About Living With Beckwith-Wiedemann Syndrome What is Beckwith-Wiedemann Syndrome (BWS)? Beckwith-Wiedemann Syndrome (BWS) is a rare overgrowth syndrome that occurs in approximately 1 in every 15,000 births. A small number of infants and children with BWS develop cancer Most children have only a few of the many distinct characteristics of the syndrome. The most common characteristics, which can range from mild to severe, are: Large tongue (macroglossia) Overall large body size with large organs Abdominal wall defects Above-average birth weight Uneven growth of limbs or organs (hemihypertrophy) Ear lobe creases or pits behind the upper ear Low blood sugar ( hypoglycemia ) shortly after birth Difficulty swallowing and eating Hearing loss Speech defects Occasional behavior abnormalities About 10 percent of children with BWS develop cancer (or 10 out of 100 children with BWS). Studies suggest that the period of highest risk for developing cancer is before the age of 4 years. The most common types of cancer that occur in children with BWS are Wilms’ tumor (kidney cancer) and hepatoblastoma liver cancer ). Other types of cancer, which occur more rarely, include adrenocortical

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