Beckwith-Wiedemann syndrome
Also written as: BWS — Beckwith-Wiedemann Syndrome
Genetic overgrowth disorder associated with increased risk of Wilms tumor and characteristic features including macroglossia and abdominal wall defects.
Full Definition
Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by genetic or epigenetic alterations affecting chromosome 11p15.5, resulting in overgrowth and predisposition to embryonal tumors. Clinical features include macroglossia, macrosomia, abdominal wall defects (omphalocele or umbilical hernia), ear creases or pits, and organomegaly. From a nephrology perspective, children with BWS have a significantly increased risk (5-10%) of developing Wilms tumor, requiring regular abdominal surveillance with ultrasound every 3-4 months until age 8. Additional renal concerns include renal abnormalities, medullary sponge kidney, and nephrocalcinosis. Early detection of Wilms tumor through screening protocols is crucial for optimal outcomes.
Usage
Usage note: Commonly abbreviated as BWS; hyphenation is standard when writing the full syndrome name.
In Context
- "The patient with Beckwith-Wiedemann syndrome underwent routine abdominal ultrasound screening for Wilms tumor." — Pediatric oncology surveillance protocol
- "Genetic counseling was provided due to the confirmed diagnosis of Beckwith-Wiedemann syndrome and associated tumor risks." — Clinical genetics consultation note