Researchers in Italy report molecular and clinical findings from 19 patients with White-Sutton Syndrome (WHSUS), making it the largest Italian cohort studied to date. The findings underscore the importance of a thorough diagnostic approach, including early nutritional support to help prevent obesity-related complications and screening for congenital malformations. Preliminary data also suggest that certain types of genetic variants (splicing variants) may be linked to more severe symptoms, offering a step toward better understanding genotype-phenotype relationships in WHSUS.