N/IICU Clinical Pathway for Evaluation and Treatment of Neonates and Infants with Beckwith-Wiedemann Syndrome
  • Genetic Testing
  • Beckwith-Wiedemann Methylation-Copy Number
  • Beckwith-Wiedemann CDKN1C Sequencing
  • Chromosomal SNP Microarray
  • Congenital Hyperinsulinism 1
  • Congenital Hyperinsulinism 2

Care Prior to Transport or Admission to CHOP

Initial referral through CHOP Transport Call:
Notify Dr. Jennifer Kalish
  • Making the Diagnosis
  • History and Physical Examination
  • Assess for BWS Features
  • Genetic Testing
BWS Clinical Features
Cardinal Features Suggestive Features
  • Omphalocele
  • Macroglossia
  • Lateralized overgrowth
    • Hemihypertrophy
    • Hemihyperplasia
  • Hyperinsulinism
    • Lasting > 1 week, requiring escalated treatment
  • Multifocal and/or bilateral Wilms tumor or Nephroblastomatosis
  • Umbilical hernia and/or diastasis recti
  • Birthweight > 2 SDS above the mean
  • Polyhydramnios and/or placentomegaly
  • Transient hypoglycemia, lasting < 1 week
  • Typical BWS tumors, consult Genetics
    • Neuroblastoma
    • Rhabdomyosarcoma
    • Unilateral Wilms tumor
    • Hepatoblastoma
    • Adrenocortical carcinoma
    • Pheochromocytoma
  • Facial nevus simplex
  • Ear creases and/or pits
  • Nephromegaly and/or hepatomegaly
  • Consult Genetics
    • If ANY Cardinal or Multiple Suggestive Features
    • Concern about possible BWS
Evaluation & Treatment
Subspecialty Consults
Genetic Testing
Discharge & Case Management
Posted: August 2020
Authors: J. Kalish, MD PhD; J. Lioy, MD; M. Hill, MD; K. Smith, CRNP; J. Carroll, RN; E. Hathaway, LCGC; J. Kabel, RN