Beckwith-Wiedemann Syndrome Differential Diagnoses

Updated: Apr 03, 2018
  • Author: Jennifer M Kalish, MD, PhD; Chief Editor: Robert P Hoffman, MD  more...
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Diagnostic Considerations

The different molecular causes of BWS have varying tumor and health risks. Due to the stratification of risk, it is important for patients with Beckwith-Wiedemann syndrome to be tested for genetic and epigenetic alterations on chromosome 11 to appropriately assess health concerns. BWS is a mosaic disorder; as such not every cell in every tissue type may be affected. Affected patients may receive negative genetic testing results if samples tested include only unaffected cells. As a result of this mosaicism, genetic or epigenetic changes are measureable in approximately 80% of affected individuals.

Diagnosis of Beckwith-Wiedemann syndrome can be challenging due to both the variable clinical presentation and the often mosaic nature of the molecular changes. Clinical features, genetic testing results, and family history should all be considered during assessment. In the absence of positive genetic testing results, a diagnosis may be reached by considering the presentation of clinical features. Listed in the Physical section are the cardinal and suggestive features, as well as the scoring system for determining a clinical diagnosis. If a patient displays enough physical characteristics to result in a clinical diagnosis of BWS, tumor screening is recommended, regardless of testing results.

Differential Diagnoses

  • Perlman syndrome

  • Simpson-Golabi-Behmel

  • Sotos syndrome

  • Weaver syndrome (Weaver-Smith)