Beckwith-Wiedemann Syndrome Guidelines

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

Patients with suspected BWS should be evaluated based on published guidelines for clinical diagnosis. Based on the new BWS consensus scoring system, cardinal features are awarded 2 points each and suggestive features are awarded 1 point each. A total of 4 points is sufficient for a clinical diagnosis. Greater than 2 points suggests the need for genetic testing for BWS. A list of cardinal and suggestive features can be found in the Physical section. [1]

Molecular testing is essential to plan and guide patient care, as tumor risk is stratified among the molecular subtypes of BWS. However, an important consideration of genetic testing is that BWS is a mosaic disorder. As such, some cell types may carry epigenetic changes while others may be normal. Thus, negative test results do not necessarily indicate that a patient does not have BWS, but rather that the cell type tested is unaffected. In lieu of a positive diagnosis, a clinical diagnosis of BWS or hemihypertrophy is sufficient to warrant tumor screening.

Tumor screening includes a full abdominal ultrasound every three months until age 4 years, and renal ultrasound from age 4-7. Additionally, alpha-fetoprotein screening is recommended every 3 months until age 4 years to screen for development of hepatoblastoma. Importantly, AFP levels may be higher at birth. AFP levels should be monitored over time and should decrease with age. Significant increases in AFP levels relative to the patient’s trend over time warrant further testing for tumor development. [15, 17]

Patients with BWS may experience other health complications including hyperinsulinism/hypoglycemia, macroglossia, hemihypertrophy, or tumor development. Further information on consultations can be found in the Consultations section.