BeckwithWiedemannin

BeckwithWiedemannin is a rare genetic overgrowth syndrome. It affects growth and development, typically resulting in an enlarged tongue, abdominal wall defects, and a higher risk of certain childhood cancers. The condition is caused by genetic alterations affecting the imprinted genes on chromosome 11p15.5. Imprinting is a phenomenon where genes are expressed in a parent-of-origin-specific manner. In BeckwithWiedemannin, this delicate balance is disrupted, leading to an excess of growth-promoting factors.

Key features of BeckwithWiedemannin include macroglossia (enlarged tongue), exomphalos (abdominal wall defect where organs protrude through the navel), hemihypertrophy (unequal growth of body parts), and increased susceptibility to Wilms tumor, a type of kidney cancer, and hepatoblastoma, a liver cancer. Other possible manifestations include hypoglycemia (low blood sugar) in newborns, earlobe creases, and characteristic facial features.

The diagnosis is usually made based on clinical features and can be confirmed by genetic testing to identify the specific molecular cause. Management focuses on monitoring for complications, particularly tumors, and addressing issues like feeding difficulties due to macroglossia and respiratory problems. Early detection and regular surveillance are crucial for improving outcomes in individuals with BeckwithWiedemannin. The genetic basis is complex, involving changes in DNA methylation or mutations in genes like CDKN1C, H19, or IGF2.