A syndrome of multiple defects characterized primarily by umbilical hernia (HERNA, UMBILICAL), MACROGLOSSIA, and GIGANTISM and secondarily by visceromegaly, HYPOGLYCEMIA, and ear abnormalities.
An anomaly that includes omphalocele, enlargement of some of the organs (often the pancreas), a large tongue and various degrees of gigantism (large baby). These children have a risk of developing some childhood tumors, such as Wilms tumor and hepatoblastoma.
large tongue, umbilical hernia, low blood sugar at birth, large birth weight, often portwine stain between eyes
A rare, overgrowth disorder in which babies are large at birth and may develop low blood sugar. Other common symptoms are a large tongue, large internal organs, and defects of the abdominal wall near the navel. Beckwith-Wiedemann syndrome increases the risk of developing certain cancers, especially Wilms tumor.
Beckwith-Wiedemann syndrome (BWS) is a rare genetic or epigenetic overgrowth syndrome (prevalence of about 1 in 36,000) associated with an elevated risk of embryonic tumor formation. BWS is caused by mutations in growth regulalting genes on chromosome 11—specifically 11p15—or by errors in genomic imprinting.