Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism.
Genes:
CDKN1C, ICR1, H19, KCNQ1OT1
Disorders:
Overgrowth
Clinical Utility:
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members