Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder characterised by a unique set of features that can consist of:

• macroglossia: most common clinical finding ⁴
• otic dysplasia ^ref
• omphalocoele
• localised gigantism / macrosomia
• hemihypertrophy
• cardiac anomalies
• pancreatic islet cell hyperplasia
• organomegaly
  • nephromegaly
  • hepatosplenomegaly

Epidemiology

The incidence is reported at ~1:13,000-37,000 live births.

Pathology

The majority of cases are sporadic while a small proportion (~15%) is autosomal dominant with abnormality related to chromosome 11p15.5. The syndrome carries a well recognised increased risk for the development of neoplasia ⁴. Another 10-20 of cases show paternal disomy 11.

Associations

• Wilms tumour(s) ¹
• polyhydramnios
• non-malignant renal diseases ³
  • medullary renal cysts
  • calyceal diverticula
  • nephrolithiasis
• premalignant renal diseases
  • perilobar nephroblastomatosis
• adrenocortical carcinoma
• gonadoblastoma
• rhabdomyosarcoma
• neuroblastoma
• pancreatoblastoma
• hepatoblastoma
• placental pathology
  • placentomegaly
  • molar degeneration of placenta
• postnatal hypoglycaemia
• genitourinary anomalies
  • hypospadias
  • cryptorchidism

History and etymology

First described independently by JB Beckwith in 1963 and H-R Wiedemann in 1964 ^6,7.