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Two case series described in 1969 by Hans-Rudolf Wiedemann, Germany, and Loma Linda, California. Initially termed EMG syndrome.

  • A syndrome with macroglossia, macrosomia and exomphalos. Other features include organomegaly, hemi-hypertrophy, neonatal hypoglycaemia and embryonal tumours.



  • Incidence = 1 in 14-15 000 live births
  • Age: congenital
  • Sex 1:1
  • Ethnicity: no predilection.


  • Aetiology has not been fully elucidated, though 80% have abnormalities in Chromosome 11p.
  • Disrupted imprinting on 11p is an important aetiological factor
    • Maternal transmission has a much greater penetrance
  • Inheritance is complex with many patterns including autosomal dominant with variable expression, aberrant imprinting, microdeletions, duplications.
  • IGF-2 has been implicated as a potential factor in some studies.
  • Most cases are sporadic mutations
    • 15% familial

Clinical features

Often an uncomplicated pregnancy, Beckwith-Wiedemann syndrome presents with pre and post-natal overgrowth, hemi-hypertrophy and variable organ overgrowth:

  • Macrosomia
  • Macroglossia
  • Organomegaly (variable), for example:
    • Hepatomegaly
    • Nephromegaly
    • Hemi-hypertrophy
  • Anterior abdominal wall defects, eg. Exomphalos
  • Intellectual impairment is a feature.
  • Neonatal hypoglycaemia
  • Horizontal notching of the pinna.

Embryonal tumours present in up to 20% of patients:

  • Wilms Tumour (most common)
  • Adrenal tumours
  • Others (less common)

Morbidity and Mortality

  • Airway management at delivery: macroglossia may cause airway compromise.
  • Wilms tumour occurs in up to 7% of children with Beckwith-Wiedemann Syndrome.
  • Cognitive impairment may be due to uncontrolled neonatal hypoglycaemia rather than a structural brain defect.


  • Laboratory serum glucose.
  • Serum insulin + IGF1 + IGF2 levels (during hypoglycaemic episode)
  • Plasma ketones + free fatty acids (during hypoglycaemic episode)
  • Imaging:
    • Appropriate investigations for any suspected malignancy.
    • Bi-annual abdominal ultrasound is recommended as a minimum by many authorities (re. embryonal tumours)
      • 3 monthly USS have been suggested until age 4 years.

Differential Diagnoses

Features are similar to many other conditions.

  • WAGR (Wilms, aniridia, genitourinary defects, mental retardations): 11p13 deletion or WT1 mutation. Aniridia and genitourinary defects no associated with Beckwith-Wiedemann.
  • 11p trisomy foetal overgrowth, frontal upsweeping hair, wide nasal bridge, beaked nose, severe cognitive impairment, fat cheeks.
  • Simpson-Golabi-Behmel syndrome: overgrowth, hypoglycaemia, embryonal tumours, splenomegaly. Specific features: syndactyly, 13 ribs, mild obesity, cataracts, retinal detachment, pectus excavatum, intestinal malrotation, hypospadias, X-linked, high early mortality, hypospadia and cryptorchidism.
  • Klippel-Trenaunay-Weber syndrome: cognitive impairment, seizures, glaucoma.
  • Sotos syndrome: macrocephaly, alveolar ridge exostoses, neonatal oedema, thyroid dysfunction (hypo or hyper), neonatal hypotonia.


  • Regular feeding to prevent hypoglycaemia
    • Diazoxide, glucagon, octreotide (rarely required) may be used.
  • Vigilance for and management of tumours as necessary
  • Discharge once able to maintain serum glucose during a normal (age-related) fasting period.
  • Parent education re. malignancy / abdominal masses.
    • Some centres advocate teaching parents abdominal examination.


  • Outpatient physical examination with growth and development monitoring
  • Malignancy screening, eg. Ultrasonography 3-6 monthly.
  • Alpha fetoprotein may be useful for hepatoblastoma screening
  • MDT / Community intervention to minimise/prevent developmental delay
    • Speech and language thereapy re. macroglossia


Prognosis is reasonable, dependent on management of neonatal hypoglycaemia and cancer screening / management.


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