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Updated: Sep 18 2023

Beckwith-Wiedemann Syndrome

  • summary
    • Beckwith-Wiedemann Syndrome is a congenital condition caused by a mutation in chromosome 11p15.5 that presents with hemihypertrophy, macroglossia, abdominal wall defects, and hypoglycemia. 
    • Diagnosis is made using physical examination and genetic testing. 
    • Treatment involves a multidisciplinary approach to address orthopedic manifestations, abdominal abnormalities, and overgrowth.
  • Epidemiology
    • Incidence
      • 1 in 13,700 births
    • Demographics
      • 1:1 male to female
  • Etiology
    • An overgrowth syndrome characterized by spectrum of clinical manisfestations, highlighted by:
      • major criteria:
        • overgrowth
        • abdominal wall defects, incl. omphalocele
        • macroglossia or large tongue
      • minor criteria
        • hemihypertrophy (10-20%)
        • ear anomalies
        • neonatal hypoglycemia
        • nephromegaly
    • Pathophysiology
      • pancreatic islet cell hypertrophy causes repeated bouts of infantile hypoglycemia resulting in spasticity
    • Genetics
      • inheritance
        • sporadic in 85% of cases
        • autosomal dominant with incomplete penetrance in remaining 15%
      • mutation
        • chromosome 11p15.5
    • Associated conditions
      • orthopaedic manifestations
        • hemihypertrophy
      • medical conditions
        • patients have a predisposition for embryonal tumors, i.e. Wilm's tumor, and should be screened with US every 3-6 months until 5-8 years of age
  • Presentation
    • Physical exam
      • macroglossia
      • midface hypoplasia
      • infraorbital creases
      • anterior linear ear lobe creases
      • visceromegaly
      • hemihypertrophy
  • Imaging
    • Radiographs
      • recommended views
        • comparison view of affected limb with contralateral limb
  • Treatment
    • Operative
      • epiphysiodesis
        • indications
          • growth arrest of the affected limb
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