{"id":27093,"date":"2024-05-26T11:56:58","date_gmt":"2024-05-26T09:56:58","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27093"},"modified":"2025-08-22T15:19:16","modified_gmt":"2025-08-22T13:19:16","slug":"beckwith-wiedemann-syndrome-spectrum","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/beckwith-wiedemann-syndrome-spectrum\/","title":{"rendered":"Beckwith-Wiedemann Syndrome Spectrum"},"content":{"rendered":"

Beckwith-Wiedemann Syndrome Spectrum \u2013\u00a0Definition<\/h2><\/div>
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Beckwith-Wiedemann syndrome (BWS; OMIM #130650) is a multisystem disorder characterized by variable features such as macroglossia, pre-and postnatal macrosomia, unilateral lateralized tall stature, neonatal hypoglycemia, and an increased risk of childhood cancer, particularly nephroblastoma, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma.<\/p>\n<\/div>

Synonyms:<\/p>\n<\/div><\/div><\/div>

Exomphalos-macroglossia-gigangism syndrome (EMG)<\/p>\n

Wiedemann-Beckwith syndrome (WBS)<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

Complex epigenetic and intragenetic alterations of parental imprinted genes on the short arm of chromosome 11(15.5-11p15.4).<\/p>\n<\/div><\/div><\/div><\/div>

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Gen\u00ade products:<\/p>\n<\/div><\/div><\/div>

IGF2 (growth factor), H19 (long non-coding RNA), CDKN1C (cell cycle inhibitor), KCNQ1OT1 (long non-coding RNA)<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

complex<\/p>\n<\/div><\/div><\/div><\/div>

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Inheritance:<\/p>\n<\/div><\/div><\/div>

Risk of recurrence and inheritance variable and dependent on the molecular genetic change<\/p>\n

10-15% familial (mainly CDKN1C mutations), autosomal dominant, here depending on the sex of the inheriting parent, overall low risk of recurrence in non-familial cases<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

about 1:10,340 live births<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

Close correlation for all clinical symptoms, cancer risk up to the age of 7:<\/p>\n