Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome (BWS) is a growth disorder that's congenital, or present from birth. BWS is variable, meaning not all children have all the physical characteristics of the syndrome. Characteristics can include:

  • Large tongue
  • Large body or asymmetrical body growth
  • Incomplete closure of the abdominal wall
  • Low blood sugar, called hypoglycemia
  • Increased frequency of tumors in the liver or kidneys
  • Large lower jaw, prominent eyes and a small midface

Many children with BWS have a genetic abnormality on chromosome number 11. In some cases, however, no cause for the syndrome can be found.

A pediatrician or a medical geneticist — a doctor specializing in genetic conditions — may diagnose Beckwith-Wiedemann based on a physical examination.

Treatment varies from child to child, depending on what characteristics the baby has and how severe they are. Treatments may include:

  • In newborns, treatment for low blood sugar, or hypoglycemia, is important to reduce the risk of central nervous system complications, which can result from insufficient nutrition to the brain.
  • Newborns with defects in the abdominal wall will have the defect repaired.
  • Infants with an insufficient airway (due to a large tongue) may need a breathing tube.
  • Since large tongues can interfere with feeding, some children may need to be fed with special nipples or given tube feedings.
  • Children should be screened for tumors, using abdominal ultrasound and serum alpha fetoprotein (AFP), every three months until 8 years of age, and tumors should be treated as needed.

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Reviewed by health care specialists at UCSF Benioff Children's Hospital.

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