Which syndrome features macrosomia, omphalocele, macroglossia, and an increased risk of Wilms tumor and renal anomalies?

• A. Beckwith-Wiedemann syndrome
• B. Patau syndrome
• C. Down syndrome
• D. Turner syndrome

Answer: (A)

Macrosomia, omphalocele, macroglossia, and an increased risk of Wilms tumor and renal anomalies point to Beckwith-Wiedemann syndrome. This overgrowth disorder arises from imprinting abnormalities on chromosome 11p15.5, which lead to increased expression of growth-promoting genes like IGF2 and reduced regulation of growth, producing large body size and organ overgrowth. The same imprinting disturbance also predisposes to embryonal tumors, particularly Wilms tumor, and to renal anomalies, and it commonly presents with omphalocele and macroglossia alongside macrosomia.

Other listed conditions have different hallmark features and tumor risk profiles, so they don’t match this specific combination. For example, Patau syndrome centers on severe midline defects such as holoprosencephaly and facial anomalies; Down syndrome features distinct facial characteristics and hypotonia with developmental delays; Turner syndrome involves short stature and gonadal dysgenesis with congenital heart issues.