What is Beckwith-Wiedemann Syndrome (BWS)?

Beckwith-WiedemannSyndrome is a rare genetic disorder that affects approximately 1 in 13,000 people; about 300 children with BWS are born each year in the United States. Estimates vary as it is believed that some people with mild or unusual symptoms are never diagnosed.  

Alex was diagnosed with BWS while in the NICU when he was approximately 3 weeks old. Genetic testing conducted at the Mayo Clinic confirmed his diagnosis on November 4, 2011.   

Alex will continue to have regular monitoring for Wilm’s tumor (kidney cancer) and heptoblastoma (liver cancer) once every three months until his 8th birthday.

Alex was born with the following diagnostic characteristics:

• Premature birth (due to placental abruption/enlarged placenta) 
• Neonatal hypoglycemia (resolved within 2 hours after birth)
• Macroglossia (enlarged tongue)
• Ear pits and grooves
• Enlarged kidney and intestines
• Prominent occiput
• Small intestine internally connected to umbilical cord (underdeveloped omphalocele)
• Heart murmur 
• Nevas Flammeus (sometimes called a "stork bite", this looks like a strawberry mark on the forehead and eyelids)

The genetic causes of Beckwith-Wiedemann Syndrome are complex. BWS results from the abnormal regulation of genes in a particular region of chromosome 11. People inherit one copy of this chromosome from each parent. For most genes on chromosome 11, both copies of the gene are expressed, or "turned on," in cells. For some genes, however, only the copy inherited from a person's father (the paternal copy) should be expressed and the maternal copy should be “turned off”. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. At least half of all cases result from changes in a process called methylation. Methylation is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA. In genes that undergo genomic imprinting, methylation is one way that a gene's parent of origin is marked during the formation of egg and sperm cells. Abnormal methylation disrupts the regulation of these genes, which leads to overgrowth and the other characteristic features of Beckwith-Wiedemann syndrome. This is how Alex inherited BWS.

Beckwith-Wiedemann Syndrome can be inherited from a parent with a family history of BWS, but it is more often the result of random events during conception where neither the mother nor father have a family history of BWS. This is true for Alex. Our chances of having another child with BWS are slim to none and luckily, if Alex decides to have children of his own one day, he will not pass this condition on to his children. 

You can learn more at the National Center for Biotechnology Information


For further reading please visit the Beckwith-Wiedemann Children's Foundation. 

You can also find support on Facebook’s Beckwith-Wiedemann Syndrom Support page.