Beckwith-Wiedemann syndrome

Abstract

Beckwith-Wiedemann syndrome is a multisystemic disease mostly caused by genomic imprinting pattern anomalies of the 11p15.5 region. BWS is characterised by a very wide clinical spectrum starting from the more classical form (overgrowth, macroglossia, abdominal wall anomalies, and neonatal hypoglycemia) to the isolated lateralised overgrowth phenotype. In order to describe this wide variability the whole phenotype has been defined as Beckwith-Wiedemann Spectrum (BWSp). Cancer predisposition is not related to clinical phenotype while it has been defined as specific genotype-phenotype correlation. This gave the possibility to plan a more specific follow-up protocol. A recent Consensus statement has been published with the contribution of different international experts; the statement analyses step by step every clinical aspect of the disease stating a long list of recommendations as regards clinical and molecular diagnosis, follow-up and multidisciplinary approach to the various clinical issues of this complex disease.