Beckwith-Wiedemann syndrome

Overview

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.

Diagnosis

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

Treatment

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.
• Children with very enlarged tongues may benefit from surgery to reduce the size of the tongue at 2 to 4 years of age. This procedure can lead to improved feeding and speech.
• Some children benefit from speech therapy.
• Surgery may be performed during puberty to equalize different leg lengths. Surgery may help with facial growth differences as well; the age when these surgeries are performed depends on the child's specific case.
• Orthodontic treatment is usually needed in adolescence.