What condition is characterized by macroglossia and omphalocele?

Beckwith-Wiedemann Syndrome is a genetic disorder marked by various symptoms, including macroglossia (enlarged tongue) and omphalocele (a type of abdominal wall defect where the intestines or other organs protrude through the abdominal wall at the base of the umbilical cord). This condition results from abnormal regulation of growth factors and can lead to an overgrowth situation, which explains the presence of macroglossia. Omphalocele occurs due to issues with normal embryonic development and is a common finding in this syndrome, along with other features such as abdominal wall defects and a predisposition to certain tumors.

The other syndromes mentioned do not typically present with both macroglossia and omphalocele as defining characteristics. For example, Turner Syndrome is associated with a variety of other features such as short stature and gonadal dysgenesis, but does not include macroglossia and omphalocele. Fragile X Syndrome relates primarily to intellectual disability and behavioral issues, without the specific features of macroglossia or omphalocele. Noonan Syndrome involves a range of developmental abnormalities and heart defects, but it is not characterized by these particular features. Hence, Beckwith-Wiedemann Syndrome