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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.
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.
The 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.
Showing the technology this term belongs to: Germline (hereditary) testing.
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Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Invitae Multi-Cancer Panel, Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
Shares Hereditary cancer syndromes, Germline (hereditary) testing and the tag hereditary.
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