Beckwith Wiedemann Syndrome
The syndrome first described by Beckwith and Wiedemann is characterized by of exomphalos, macroglossia, and gigantism. Beckwith Wiedemann Syndrome (BWS) is now considered as overgrowth disorder involving an elevated risk of tumour development. The clinical presentation is highly variable; some cases even lack the typical features as originally described. The estimated population incidence of 1 in 10-15.000, males and females equally. Milder clinical manifestations may not be recognized, as being part of the BWS spectrum. In addition to clinical heterogeneity, BWS also shows a spectrum of molecular causes. A variety of (epi) genetic alterations in growth regulatory genes on chromosome 11p15.5 are associated with specific phenotype–(epi)genotype correlations including different recurrence risks. BWS usually occurs sporadically (85%), but familial transmission occurs.