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  • A complex syndrome resulting from various genetic and epigenetic anomalies of the 11p15.5 chromosomal region, leading to dysregulated expression of imprinted genes. Specific genes involved include CDKN1C, H19, IGF2, and KCNQ1OT1. One of the key genetic anomalies is an imbalance between the paternally expressed IGF2 growth enhancer gene and the maternally expressed H19 growth suppressor gene, leading to fetal and postnatal overgrowth. The condition is typically characterized by macrosomia, macroglossia, umbilical hernia or more severe abdominal wall anomalies such as omphalocele, ear lobe indentations, and hypoglycemia associated with hyperinsulinemia due to pancreatic islet cell hyperplasia. Patients with this syndrome have an increased risk for development of embryonal tumors (particularly Wilms tumor and hepatoblastoma) and adrenal cortex carcinoma.
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