Beckwith-Wiedemann Syndrome (BWS): Background |
BWS is a genetically associative disorder that occurs in newborns. It causes overdevelopment of certain body parts due to silencing of genes on chromosome 11p15.5 (Gizewska et al., 2014). These genes are called CDKN1C and IGF2 and are deleted in the respective gene sequence or silenced through methylation (Algar, Dagar, Sebaj, &Pachter, 2011). When these mutated or silenced genes are expressed, a defect is produced in newborns.
Cases of BWS are infrequent. As stated by Ibrahim et al. (2014), it has been observed in 5% of the population of which 50% of the cases seem to be hereditary. BWS cases are also associated with a higher probability of neoplasia such as Wilms’ tumor.