{"orpha":116,"name":"Beckwith-Wiedemann syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["BWS","Exomphalos-macroglossia-gigantism syndrome","Wiedemann-Beckwith syndrome"],"definition":"A rare imprinting disorder characterized by pre- and postnatal overgrowth, macroglossia, abdominal wall defects and an elevated tumor risk. The clinical expression is variable, ranging from lateralised overgrowth to a pronounced clinical presentation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-116/","orphanet_url":"https://www.orpha.net/en/disease/detail/116","names":{"fr":{"name":"Syndrome de Beckwith-Wiedemann","synonyms":["BWS","Syndrome d'omphalocèle-macroglossie-gigantisme","Syndrome de Wiedemann-Beckwith"],"definition":"Maladie rare liée à des anomalies de l'empreinte génétique caractérisée par une croissance excessive avant et après la naissance, une macroglossie, des anomalies de la paroi abdominale et un risque accru de tumeurs. Le tableau clinique est variable, oscillant entre une croissance excessive unilatérale et un tableau clinique marqué."},"de":{"name":"Beckwith-Wiedemann-Syndrom","synonyms":["BWS","Exomphalos - Makroglossie - Gigantismus","Wiedemann-Beckwith-Syndrom"],"definition":"Eine seltene Imprinting-Störung, die durch prä- und postnatales Größenwachstum, Makroglossie, Bauchwanddefekte und ein erhöhtes Tumorrisiko gekennzeichnet ist. Die klinische Ausprägung ist variabel und reicht von seitlichem Überwachsen bis hin zu einer ausgeprägten klinischen Präsentation."},"es":{"name":"Síndrome de Beckwith-Wiedemann","synonyms":["Onfalocele-macroglosia-gigantismo","SBW","Síndrome de Wiedemann-Beckwith"],"definition":"Es un trastorno poco frecuente de la impronta que se caracteriza por sobrecrecimiento pre- y posnatal, macroglosia, defectos de la pared abdominal y un elevado riesgo de desarrollo de tumores. La expresión clínica es variable, desde sobrecrecimiento lateralizado hasta una presentación clínica severa."},"it":{"name":"Sindrome di Beckwith-Wiedemann","synonyms":["BWS","Disomia uniparentale paterna del cromosoma 11, tipo in mosaico","Disomia uniparentale paterna del cromosoma 11, tipo mosaico","Esonfalo - macroglossia - gigantismo","Sindrome di Wiedemann-Beckwith"],"definition":"La sindrome di Beckwith-Wiedemann (BWS) è una malattia genetica caratterizzata da iperaccrescimento, predisposizione ai tumori e malformazioni congenite."},"nl":{"name":"Syndroom van Beckwith-Wiedemann","synonyms":["BWS","Exomphalos - macroglossie - gigantisme-syndroom","Syndroom van Wiedemann-Beckwith"],"definition":"Een zeldzame imprintingsstoornis, gekenmerkt door pre- en postnatale overgroei, macroglossie, defecten van de buikwand, en een verhoogd risico op tumor. De klinische expressie is variabel, gaande van gelateraliseerde overgroei tot een uitgesproken klinische presentatie."},"pt":{"name":"Síndrome Beckwith-Wiedemann","synonyms":["Síndrome Wiedemann-Beckwith","Síndrome de exonfalos-macroglossia-gigantismo"],"definition":"A síndrome de Beckwith-Wiedemann (BWS) é uma doença genética caracterizada por sobrecrescimento, predisposição tumoral e malformações congénitas."},"pl":{"name":"Zespół Beckwitha i Wiedemanna","synonyms":["BWS","Przepuklina pępowinowa - makroglosja - gigantyzm","Zespół Wiedemanna i Beckwitha"],"definition":"Zespół Beckwitha-Wiedemanna to genetycznie uwarunkowane schorzenie charakteryzujące się przerostem, predyspozycją do nowotworów i wadami wrodzonymi."},"cs":{"name":"Beckwithův-Wiedemannův syndrom","synonyms":["BWS","Syndrom zahrnující exomphalus, makroglosii a gigantismus","EMG syndrom","Wiedemannův-Beckwithův syndrom","Beckwith-Wiedemannův syndrom","Wiedemann-Beckwithův syndrom"]},"uk":{"name":"Синдром Беквіта-Відемана","synonyms":["BWS","Синдром екзомфалос-макроглосія-гігантизм","Синдром Відемана-Беквіта"],"definition":"Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations."},"zh":{"name":"Beckwith-Wiedemann综合征","synonyms":["脐凸出-舌肥大-巨人症综合征"]},"tr":{"name":"Beckwith-Wiedemann sendromu","synonyms":["BWS","Wiedemann-Beckwith sendromu","Ekzomfal-makroglosi-jigantism sendromu"]}},"xrefs":[{"source":"OMIM","code":"130650","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"803086260"},{"source":"MONDO","code":"0007534","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001506","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0004903","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3343","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10050344","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":641343,"name":"Imprinting disorders","classifications":[156]},{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]},{"orpha":156207,"name":"Macroglossia","classifications":[147,156,209]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":217595,"name":"Syndrome associated with hypertrophic cardiomyopathy","classifications":[146,156,233]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[{"orpha":231127,"name":"Beckwith-Wiedemann syndrome due to 11p15 microdeletion","type":"Etiological subtype"},{"orpha":96076,"name":"Beckwith-Wiedemann syndrome due to 11p15 microduplication","type":"Etiological subtype"},{"orpha":231130,"name":"Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion","type":"Etiological subtype"},{"orpha":231120,"name":"Beckwith-Wiedemann syndrome due to CDKN1C mutation","type":"Etiological subtype"},{"orpha":231117,"name":"Beckwith-Wiedemann syndrome due to imprinting defect of 11p15","type":"Etiological subtype"},{"orpha":96193,"name":"Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CDKN1C","name":"cyclin dependent kinase inhibitor 1C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26077438[PMID]_20803657[PMID]_20301568[PMID]","hgnc":"1786","ensembl":"ENSG00000129757","omim":"600856","loci":["11p15.4"],"via":{"orpha":231120,"name":"Beckwith-Wiedemann syndrome due to CDKN1C mutation"}},{"symbol":"H19","name":"H19 imprinted maternally expressed transcript","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"21863054[PMID]_20803657[PMID]_20301568[PMID]","hgnc":"4713","ensembl":"ENSG00000130600","omim":"103280","loci":["11p15.5"],"via":{"orpha":231117,"name":"Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"}},{"symbol":"H19","name":"H19 imprinted maternally expressed transcript","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"15314640[PMID]","hgnc":"4713","ensembl":"ENSG00000130600","omim":"103280","loci":["11p15.5"],"via":{"orpha":231127,"name":"Beckwith-Wiedemann syndrome due to 11p15 microdeletion"}},{"symbol":"IGF2","name":"insulin like growth factor 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21863054[PMID]_20803657[PMID]_20301568[PMID]","hgnc":"5466","ensembl":"ENSG00000167244","omim":"147470","loci":["11p15.5"],"via":{"orpha":231117,"name":"Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"}},{"symbol":"KCNQ1OT1","name":"KCNQ1 opposite strand/antisense transcript 1","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"12019213[PMID]_20803657[PMID]_20301568[PMID]","hgnc":"6295","ensembl":"ENSG00000269821","omim":"604115","loci":["11p15.5"],"via":{"orpha":231117,"name":"Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"}}],"inheritance":["Autosomal dominant","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Spain","status":"Validated","source":"10199027[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.25,"area":"Japan","status":"Validated","source":"2092586[PMID]_7424972[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.4,"area":"Jamaica","status":"Validated","source":"5434588[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Italy","status":"Validated","source":"23918458[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-16","source":"20301568[PMID]_842515[PMID]_1872243[PMID]_7604127[PMID]_9083309[PMID]_10755868[PMID]_11124932[PMID]_12584548[PMID]_12970646[PMID]_14568801[PMID]_15580204[PMID]_15811927[PMID]_16370286[PMID]_25085994[PMID]_26367199[PMID]_22015620[PMID]_14231762[PMID]","terms":[{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000309","label":"Abnormal midface morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009908","label":"Anterior creases of earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001139","label":"Choroideremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001528","label":"Hemihypertrophy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100876","label":"Infra-orbital crease","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006267","label":"Large placenta","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031510","label":"Linear earlobe crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011417","label":"Long umbilical cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008659","label":"Multiple small medullary renal cysts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001052","label":"Nevus flammeus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004464","label":"Postauricular pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008523","label":"Posterior helix pit","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030720","label":"Subchorionic septal cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003271","label":"Visceromegaly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012090","label":"Abnormal pancreas morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006744","label":"Adrenocortical carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008186","label":"Adrenocortical cytomegaly","frequency":"Occasional (29-5%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008676","label":"Congenital megaureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006254","label":"Elevated alpha-fetoprotein","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000329","label":"Facial hemangioma","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000150","label":"Gonadoblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002884","label":"Hepatoblastoma","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001639","label":"Hypertrophic cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030255","label":"Large intestinal polyposis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100243","label":"Leiomyosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003006","label":"Neuroblastoma","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000362","label":"Otosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001901","label":"Polycythemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002859","label":"Rhabdomyosarcoma","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100589","label":"Urogenital fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000260","label":"Wide anterior fontanel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000852","label":"Pseudohypoparathyroidism","frequency":"Very rare (<4-1%)","criteria":null}]}}