Beckwith-Wiedemann syndrome macroglossia omphalocele +left posterolateral diaphragmatic hernia bochdalek with right mediastinal shift vs Fryn syndrome : micrognathia with protruded tongue & CDH?

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

• macroglossia: most common clinical finding 
• ear pits or creases
• omphalocele
• localized gigantism / macrosomia
• lateralized overgrowth (hemihypertrophy)
• cardiac anomalies
• pancreatic islet cell hyperplasia
• organomegaly
  • nephromegaly
  • hepatosplenomegaly

Epidemiology

The incidence is estimated at around 1:10,000 live births. As such, it is the most common overgrowth and cancer predisposition disorder  There is no gender or ethnicity predilection.

Associations

• malignancies
  • Wilms tumors 
  • hepatoblastoma
  • neuroblastoma
  • rhabdomyosarcoma
  • adrenocortical carcinoma
  • gonadoblastoma
  • pancreatoblastoma
• polyhydramnios
• non-malignant renal diseases 
  • nephromegaly
  • renal medullary dysplasia
  • calyceal diverticula
  • nephrolithiasis in adolescents and adults
• • perilobar nephroblastomatosis
• placental pathology
• placentomegaly
  • molar degeneration of placenta
• postnatal hypoglycemia
• genitourinary anomalies
  • hypospadias
  • cryptorchidism

Pathology

The majority of cases are sporadic while a small proportion (5-10%) is autosomal dominant with abnormality related to chromosome 11p15.5 (i.e. Beckwith-Wiedemann syndrome critical region). The syndrome carries a well-recognized increased risk for the development of neoplasia  ..

History and etymology

First described independently by J B Beckwith in 1963 and H R Wiedemann in 1964  .

Differential diagnosis

The following disorders share features with Beckwith-Wiedemann syndrome:

• Perlman syndrome: extremely rare; organomegaly,