Beckwith-Wiedemann syndrome

Congenital overgrowth syndrome usually recognized at birth.

Characterized by Wilm’s tumor, rhabdomyosarcoma, macroglossia, abnormal wall defects, neuroblastoma, hemihypertrophy, hepatoblastoma, in association with cancers, including adrenal cancers.

Involves dysregulation of imprinted genes found with in the 11p15 region including IGF2, H19, KCNQ1, KCNQ1OT1, CDKN1C.

Patients often have uniparental paternal isodisomy for the IGF2 locus, leading to its over expression and subsequent tumor progression.

85% of cases are in a sporadic form, and it can be inherited as an autosomal dominant process with variable penetrance.

Approximately 3% of patients develop adrenal cortical cancers.

Hypoglycemia due to hyperplastic islet cells of Langerhans seen in 54% of patients.

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