Beckwith-Wiedemann Syndrome

What is Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is a congenital growth disorder, which means it’s present at birth. BWS has various signs and symptoms, including a large body size at birth and taller-than-average height during childhood, a large tongue, and hypoglycemia (low blood sugar). In some children with BWS, parts of the body, such as the ears, may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth, known as hemihyperplasia, usually begins to slow by age 8. BWS can also lead to an increased risk of certain childhood cancers, most commonly Wilms tumor (kidney tumor) and hepatoblastoma (liver tumor).

What are the symptoms of Beckwith-Wiedemann syndrome?

Children with Beckwith-Wiedemann syndrome may have certain signs and symptoms of the condition, including:

  • overgrowth of one side of the body or a part of one side of the body (hemihypertrophy/hemihyperplasia)
  • an enlarged tongue (macroglossia)
  • low blood sugar (hypoglycemia) as a newborn and sometimes prolonged hypoglycemia
  • abnormalities in the abdominal wall (such as an umbilical hernia or an omphalocele, where the intestines or other abdominal organs protrude from the abdominal wall to outside the body)
  • enlarged organs, such as the kidneys, liver, or pancreas
  • creases in the earlobe or behind the ear

What causes Beckwith-Wiedemann syndrome?

BWS has been linked to an abnormality with chromosome 11. About 15 percent of cases are hereditary, meaning it is passed on from a parent. The other 85 percent of cases seem to occur by chance. People with BWS have up to a 50 percent chance of passing the gene to their child.

How is Beckwith-Wiedemann syndrome diagnosed?

Your child’s doctor may diagnose them with Beckwith-Weidemann syndrome based on:

  • a detailed review of your child’s medical history
  • an extensive physical examination, including noting the distinguishing features of BWS
  • specialized tests, such as bloodwork or ultrasounds
  • genetic testing

How is Beckwith-Wiedemann syndrome treated?

Some treatments and services for Beckwith-Weidemann syndrome performed at Boston Children’s include:

Our approach to Beckwith-Wiedemann syndrome

Boston Children’s Hospital has skilled specialists who treat the range of issues that can be associated with Beckwith-Wiedemann syndrome. Your child may meet with plastic surgeons, geneticists, oncologists, endocrinologists, pulmonologists, orthodontists, speech pathologists, and feeding specialists.