Beckwith–Wiedemann Syndrome

Reference work entry

The Beckwith–Wiedemann syndrome (BWS) is the most common and the best-known congenital overgrowth syndrome. It was named after Beckwith who, in 1963, described three unrelated patients with exomphalos, hyperplasia of the kidneys and pancreas, and adrenal cytomegaly. Wiedemann in 1964 reported a familial form of omphalocele with macroglossia. The incidence is estimated to be about one in 13,700 births.

Synonyms and Related Disorders

Exomphalos-macroglossia-gigantism syndrome; Wiedemann-Beckwith syndrome

Genetics/Basic Defects

  1. 1.
    Genetics of BWS: complex (Engel et al. 2000)
    1. a.
      Pedigree data
      1. i.

        Sporadic (85%)

         
      2. ii.

        Familial (15%): autosomal dominant inheritance with variable expressivity, incomplete penetrance, and preferential maternal transmission

         
       
    2. b.
      Karyotypic data
      1. i.
        Chromosome rearrangements influenced by the parent of origin (2%)
        1. a)

          Paternally derived 11p15.5 duplications exhibiting atypical clinical features as well as a significant risk of developmental delay

           
        2. b)

          Maternally...

Keywords

Recurrence Risk Normal Karyotype Abdominal Wall Defect Uniparental Disomy Negative Family History 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

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