{"entity":{"id":"beckwith-wiedemann-syndrome","kind":"term","name":"Beckwith-Wiedemann syndrome","aka":["BWS","Beckwith-Wiedemann spectrum","BWSp","11p15 overgrowth"],"tldr":"Beckwith-Wiedemann syndrome is an overgrowth condition, caused by changes in a region of chromosome 11, that raises the risk of childhood kidney and liver tumours. Most children are offered a tummy ultrasound every three months until their seventh birthday so that any tumour is found small.","summary":"An imprinting disorder of 11p15.5 with variable overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralised overgrowth and embryonal tumour predisposition. The molecular subgroup (IC2 loss of methylation, IC1 gain of methylation, paternal uniparental disomy 11, CDKN1C mutation, 11p15 duplication) predicts tumour type and recurrence risk.\n\nThe 2018 international consensus (72 recommendations) recommends abdominal ultrasound every three months until the seventh birthday for all with the Beckwith-Wiedemann spectrum except isolated IC2 loss of methylation; targeted by subgroup to Wilms tumour, hepatoblastoma (paternal UPD11) or neuroblastoma (CDKN1C). The AACR 2017 North American recommendations screen all such children: renal ultrasound every three months to age 7, and abdominal ultrasound with alpha-fetoprotein every three months to age 4 for hepatoblastoma.","asOf":"2026-11-04","wikipedia":"https://en.wikipedia.org/wiki/Beckwith–Wiedemann_syndrome","links":[{"label":"Brioude, Nat Rev Endocrinol 2018: international consensus on Beckwith-Wiedemann syndrome","url":"https://doi.org/10.1038/nrendo.2017.166"},{"label":"Kalish, Clin Cancer Res 2017: surveillance for overgrowth syndromes with predisposition to Wilms tumour and hepatoblastoma (AACR)","url":"https://doi.org/10.1158/1078-0432.ccr-17-0710"},{"label":"Orphanet ORPHA:116","url":"https://www.orpha.net/en/disease/detail/116"},{"label":"NHS England National Genomic Test Directory, rare and inherited disease, version 9 (spreadsheet)","url":"https://www.england.nhs.uk/wp-content/uploads/2018/08/rare-and-inherited-disease-national-genomics-test-directory-v9.xlsx"}],"tags":["gap-fill","hereditary"],"related":[],"cancers":["wilms-tumor","hepatoblastoma","neuroblastoma"],"sections":[],"technologies":["germline-testing"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["NHS England genomic test directory: R49 (11p15 methylation and copy number; CDKN1C). Orphanet ORPHA:116."],"category":"Genomics & genetics"},"route":"/terms/beckwith-wiedemann-syndrome/","neighbours":{"cancer":[{"id":"hepatoblastoma","kind":"cancer","name":"Hepatoblastoma","route":"/cancers/hepatoblastoma/"},{"id":"neuroblastoma","kind":"cancer","name":"Neuroblastoma (paediatric)","route":"/cancers/neuroblastoma/"},{"id":"wilms-tumor","kind":"cancer","name":"Wilms tumour (nephroblastoma)","route":"/cancers/wilms-tumor/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"term":[{"id":"hereditary-cancer-syndromes","kind":"term","name":"Hereditary cancer syndromes","route":"/terms/hereditary-cancer-syndromes/"}],"drug":[{"id":"invitae-multi-cancer-panel","kind":"drug","name":"Invitae Multi-Cancer Panel","route":"/drugs/invitae-multi-cancer-panel/"}]}}