Beckwith-Wiedemann Syndrome (BWS) is a disease that causes overgrowth. It is an autosomal dominant disease.
It is also possible that there is some role due to imprinting in the inheritance of the disease.There is a BWS gene on the
short arm of chromosome 11. The gene is 11p15.5 and contains a type 2 insulin growth (IGF2) factor that causes BWS.
The disease leads to overgrowth before and after birth, earlobe creases and pits, bulging eyes, asymmetry, and
tumors that may effect abdominal organs. Low blood sugar levels are also a very large effect, as well as a high
red blood cell count. There is also an increased risk for childhood tumor growth. However, most BWS children grow into
normal adults as the effects seem to stop around puberty.
BWS can be detected by a large placenta, long umbilical cod, ear creases and pits, gigantism, and defects in the
abdoman, such as umbilical cord hernia which can be detected in the second trimester. Any or all of the body can
exhibit large growth in BWS. The risk that BWS presents to a growing fetus is death before birth due to lack of space
in the uterus. Because of the size, BWS infants are usually born early.
Treatments are mostly preventative. They include monitoring of tumors through blood tests, and liver and abdominal
ultrasounds every six to twelve weeks until the child is eight years old. Those with BWS are also treated heavily for hypoglycemia
(low blood sugar) and the tongue may be surgically reduced in size.
