Abstract
Beckwith-Wiedemann Syndrome (BWS) is an inborn growth disorder caused by molecular alterations in chromosome 11p15.5. Due to the varying clinical findings of patients with 11p15.5 disturbances, the syndromic entity was expanded to the Beckwith– Wiedemann spectrum (BWSp). BWSp describes a complex heterogeneous and multisystem disease spectrum. It can be diagnosed by clinical assessment and/or molecular testing. The clinical features comprise characteristic developmental anomalies, including midline abdominal defects, macroglossia, overgrowth, hemihypertrophy, and neonatal hypoglycemia. Patients with BWSp patients are predisposed to malignancy during their early childhood.
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