Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome estimated to affect between 1 in 10,000 and 1 in 15,000 newborns. Symptoms of BWS can be variable between affected individuals with common features including an enlarged tongue (macroglossia), above average birth weight (macrosomia), hypoglycemia, and abdominal wall defects. Most cases of BWS result from alterations in gene regulation at one of two imprinted regions of chromosome 11; H19DMR (IC1) and KvDMR (IC2). BWS can also be caused by paternal uniparental disomy (UPD), and less commonly, by pathogenic variants in the CDKN1C gene or small translocations and deletions of chromosome 11.
NHSE test directory code: R49 Beckwith-Wiedemann syndrome. Testing criteria can be found on this webpage: https://www.england.nhs.uk/publication/national-genomic-test-directories/.
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