Researchers from Children’s Hospital Philadelphia (CHOP) have compiled descriptive clinical manifestations of WAGR syndrome that were not earlier identified as classic symptoms. The study was published in Frontiers in Pediatrics. What is WAGR syndrome? WAGR syndrome is a rare genetic disease , with cases occurring in 1:500,000 to 1:1,000,000 births . It is mainly characterized by its classic manifestations as represented in figure 1 and is synonymized based upon them.
It is marked by a deletion of chromosome 11p13 in the region WT1 and PAX6, along with deletions in the BDNF gene that determine the phenotypic traits like behavioral/cognitive function and obesity. Figure 1 represents the four classic manifestations of WAGR syndrome and the general behavioral issues that may or may not be present. Figure 1. Classic manifestations of WAGR syndrome *Behavioral issues may be absent *Wilm’s…
