Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association.

ABSTRACT: Beckwith-Wiedemann spectrum (BWSp) is a congenital imprinting disorder characterized by overgrowth, cancer predisposition, and diverse clinical manifestations, resulting from epigenetic and genetic alterations at chromosome 11p15.5. BWSp represents the most common imprinting disorder, with a prevalence exceeding 1:10,000. The disorder is primarily associated with loss or gain of methylation at imprinting control regions IC2 and IC1, paternal uniparental disomy of 11p15, or pathogenic variants in CDKN1C. Advances in molecular diagnostics have refined genotype-phenotype correlations, improving both clinical management and tumor screening protocols. This review, produced by the Scientific Committee of the Italian BWSp Association (AIBWS), builds upon the 2018 international consensus, incorpor

SUBMITTER: Russo S 

PROVIDER: S-EPMC12542140 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature