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Beckwith-Wiedemann Syndrome (BWS)
Wednesday, 02 July 2003
Sunday, 03 December 2006

What

Beckwith-Wiedemann syndrome (BWS) is a disorder of overgrowth characterized by macrosomia (large body size), macroglossia (large tongue), visceromegaly (large organs in the abdomen), tumors (Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma), omphalocele (large sack-like herniation of the umbilicus), neonatal hypoglycemia (low blood sugars), and ear creases and pits.

Who

BWS is a congenital disorder with an incidence around 1 in 15,000 births. The incidence is higher in infants produced with in vitro fertilization. It occurs equally in males and females and has no racial predilection. Wilm’s tumor is the most common tumor associated with BWS and occurs in 5-7% of all children, usually before 4 years of age, but can occur in older children.

Signs and Symptoms

The following signs and symptoms commonly occur in a child with BWS, but it is rare for the child to have all the characteristics. Some of the physical findings can be corrected, and most of the symptoms improve with time as the child grows.

  • Polyhydramnios (increased amount of fluid in the amniotic sac surrounding the baby before birth)
  • Prematurity (birth before 38 weeks of gestation)
  • Macrosomia (increased growth in weight and height over the 97%)
  • Earlobe creases or pits behind the upper ear
  • Macroglossia (large tongue) leading to feeding difficulties and occlusion of the respiratory airways
  • Omphalocele (sac-like herniation of the umbilicus or belly button) or umbilical hernia
  • Visceromegaly (large abdominal organs)
  • Tumors (eg Wilms tumor, hepatoblastoma, rhabdomyosarcoma)
  • Hemi-hypertrophy (over growth of one part of the body, usually on one side but both sides can be affected, which is not present at birth, but appears later in childhood.)
  • Adrenocortical cytomegaly (enlarged adrenal gland)
  • Neonatal hypoglycemia (low blood sugars occurring soon after birth)
  • Kidney abnormalities  Cleft palate (rare)
  • Facial nevus flammeus (strawberry birth mark found on the forehead, eyelids)
  • Hemangioma (red birth marks, raised or flat, that grow larger over time then recede)
  • Unusual bony structures of the face
  • Heart abnormalities
  • Weakened abdominal muscles (pot belly appearance)
  • Advanced bone age

Possible Causes

BWS is usually sporadic, but can also be inherited. The gene thought to be responsible has been mapped to chromosome 11. The gene becomes altered and is passed through family members.

Diagnosis

BWS diagnosed clinically by identification of the signs and symptoms noted above. Specialized chromosomal studies can be performed. Blood tests are usually performed to assess blood sugar levels. Alpha-fetoprotein levels are also frequently checked to assess for tumor development.

Treatment

There is no cure for BWS, however several of the problems can be medically managed or treated with surgery. Patients with hypoglycemia require either IV glucose, medication, or diet to treat the hypoglycemia. Routine physical examination and ultrasound imaging is recommended to monitor for the development of tumors. Liver and abdominal ultrasounds are recommended every 6-12 weeks until the child is eight years old, and the blood levels of alpha-fetoprotein is monitored every 6-12 weeks until the child is three years old. Wilms tumor and hepatoblastoma occur most frequently, and fortunately, only 5% of the children with BWS actually develop these cancers. If the child has an enlarged tongue, surgical procedures can reduce the size. The abdominal wall problems, such as the omphalocele and umbilical hernia, are also treated surgically.

Prognosis

Many of the problems for children with BWS appear in the first three to eight years of life. With ongoing and proper medical treatment given during these early years, the prognosis of children with BWS is extremely good. Many of the problems resolve as the child grows and matures.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Beckwith Wiedemann Support Network
Official site of the BWS support network. It is a great and informative website for families.

Medline Plus
Nicely written but somewhat complex information about the disease.

The Beckwith Wiedemann Syndrome Family Forum
A great website geared at providing support for families affected by the disease.

Google Search for Beckwith-Wiedemann Syndrome (BWS)

References and Sources

www.emedicine.com/ped/topic218.htm Official site of the BWS support network www.beckwith-wiedemann.org/index.html National Library of Medicine: www.nlm.nih.gov/medlineplus/ency/article/001186.htm Keep Kids Healthy: www.keepkidshealthy.com/welcome/conditions/beckwithwiedemann.html