Beckwith-Wiedemann Syndrome | Symptoms & Causes
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.
Beckwith-Wiedemann Syndrome | Diagnosis & Treatments
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:
- Tongue reduction to help with feeding or breathing
- Abdominal wall or hernia repairs
- Orthopedic interventions or surgery
- Rehabilitation services such as speech, physical, or occupational therapy
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.
