What is BWS?

BWS – Beckwith Wiedemann Syndrome

This is a rare genetic disorder and there is not a lot of information accessible.  When Thomas was first diagnosed with this I had never heard of it before.  I quickly began to do research but soon discovered that the information is lacking.

The website at Children’s Hospital of Philadelphia does a great job explaining BWS, but below is a quick overview.

• Beckwith Wiedemann Syndrome is an overgrowth disorder that usually presents at birth.  The severity of the syndrome varies from child to child.
• Features that children can have are, it is very rare that a child would have all of these. Thomas’s are listed in red
  • large body size
  • enlarged organs – Thomas’s kidneys are slightly enlarged.
  • macroglossia (enlarged tongue)
  • omphalocele (intestines are outside the body)
  • umbilical hernia
  • “stork bites” or red marks on the forehead
  • ear creases or pits
  • overgrowth on one side or part of the body
  • neonatal hypoglyemia
• 1 in a 11,000 births is affected
• Most cases of BWS happen sporadically, some can be inherited.  In Thomas’s case it was sporadic.
• greater risk of developing childhood cancer, particularly liver and kidney tumor
  • Wilms’ Tumor
  • Hepatoblastoma

• screening protocol blood draws to check the AFP (Alph Fetoprotein) level every 3 months until the age of 4, ultrasounds of the abdomen every 3 months until age 8

If you have any questions please let me know and I will do my best to answer them.