What is Beckwith-Wiedemann Syndrome?
Beckwith-Wiedemann syndrome, or BWS as it is commonly referred, is a genetic condition that results from the abnormal regulation of genes in a particular region of chromosome 11. It can lead to many issues, including:
Who is Affected?
Approximately 300 children per year are born with Beckwith-Wiedemann syndrome. Most cases of BWS are sporadic, meaning that usually no one else in that family has BWS. The parents of an affected child are usually not at increased risk of having other children with BWS. However, some cases of BWS are familial, meaning that someone else in that family may also have BWS.
How is BWS Diagnosed?
Beckwith-Wiedemann syndrome is often diagnosed prenatally due to identifiable features including abdominal wall defects, macroglossia, or hemihypertrophy/hemihyperplasia (a condition in which one side of the body grows more rapidly than the other.)
It is not uncommon for babies with BWS to be born prematurely and to have issues related to hypoglycemia (low blood sugar). The neonatal hypolglycemia typically lasts for one month. Respiratory distress can also be seen in newborns with BWS and is typically related to macroglossia
Ongoing Care Management
Children with BWS need to be screened regularly for malignancy as they are at an increased risk of cancers, including Wilms' tumor
(nephroblastoma), pancreatoblastoma and hepatoblastoma
. Screening protocols may vary, but on average, children should have an abdominal ultrasound every 3 months until at least eight years of age and a frequent blood tests every year to measure alpha-fetoprotein
(AFP) until at least four years of age. This risk typically dissipates after childhood.
Ongoing screening protocol includes:
- AFP blood test every 6 weeks from birth to 4 years old
- Kidney and Liver ultrasound every 3 months from birth to 8 years
More information about BWS