Beckwith-Wiedemann Syndrome

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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