Information sheet about Beckwith-Wiedemann Syndrome (BWS)

Other Names

Wiedemann-Beckwith Syndrome (WBS); Exomphalos macroglossia gigantism syndrome; EMG Syndrome; Beckwish-Syndrome; BWS; Hypoglycemia with Macroglossia; Omphalocele-Visceromegaly-Macroglossia Syndrome; Visceromegaly-Umbilical Hernia-Macroglossia Syndrome.

Categories

Congenital and Genetic Diseases.

Signs and Symptoms

Beckwith-Wiedemann syndrome (BWS) is a growth disorder.

Signs and symptoms of BWS vary and may include:

  • Large birth weight and children are larger than normal, usually until age 8, when growth slows down, resulting in an average height in adults.
  • Opening in the wall of the abdomen that allows the abdominal organs to protrude through the belly-button.
  • Umbilical hernia (soft out-pouching around the belly-button).
  • Abnormally large tongue which may interfere with breathing, swallowing and speaking.
  • Abnormally large abdominal organs.
  • Creases or pits in the skin near the ears.
  • Low blood sugar (hypoglycemia) in infancy.
  • Kidney abnormalities.

Cause/Inheritance

  • The genetic causes of BWS are complex.
  • Approximately 85 percent of people with BWS have no family history of the syndrome.
  • In rare instances the condition can be inherited.
  • The condition may result from changes in the structure of chromosome 11.
  • Where this condition is inherited it appears to be an autosomal dominant pattern of inheritance, which means that one copy of the changed gene from either parent is enough to cause the condition.
  • For others the condition may occur due to a random event when the egg or sperm are produced or in early stages of development before birth.

 Treatment and Management

Treatment of BWS is based on the symptoms present for each person. Often treatment will involve numerous specialists which may include:

  • Geneticists
  • Paediatricians
  • Plastic surgeons
  • Kidney specialists
  • Dental specialists
  • Speech pathologists
  • Paediatric oncologists.

A combination of treatments and therapies may be recommended and could include:

  • Infants with low blood sugar may be treated by fluids given through a vein (intravenous solutions) and regular monitoring.
  • Problems with the abdominal wall may need to be repaired surgically.
  • Children at risk for tumours can undergo regular screening and appropriate treatment.
  • Children may experience difficulty with feeding and breathing, especially at night due to a large tongue, so strategies to reduce these difficulties may need to be put in place.

Support Contacts Australia

Genetic Alliance Australia http://www.geneticalliance.org.au/conditions_detail.php?Beckwith-Wiedemann-syndrome-73

Support Contacts International

Beckwith-Wiedemann Support Group https://www.bwssupport.com/Ectodermal Dysplasia

Beckwith-Wiedemann Children’s Foundation International http://www.beckwithwiedemann.org/

Facebook Support

Beckwith-Wiedemann Children’s Foundation International https://www.facebook.com/BWCFI/

Beckwith-Wiedemann Syndrome Support https://www.facebook.com/Beckwith-Wiedemann-Syndrome-Support-129150210438651/

Sources

Genetics Home Reference https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome#diagnosis

National Organisation for Rare Disorders https://rarediseases.org/rare-diseases/beckwith-wiedemann-syndrome/

Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome

Last update

June 2018

The information on this page is provided to support the understanding of the condition for those affected in any way by the condition. This information has been complied by a non-medically qualified person.