The first isolated cases of congenital (CSD) were reported in 1985 (Booth et al. 1985; Holmberg and Perheentupa 1985). Over the following years, additional cases were reported across various countries, highlighting both the clinical diversity and genetic variability of the condition (Ivanov and Novikova 2020). Syndromic congenital secretory sodium diarrhea is a rare genetic intestinal disorder with syndromic features, characterized by the early onset of severe sodium-rich watery diarrhea, often accompanied by hyponatremia and metabolic acidosis. Typical associated anomalies include unilateral or bilateral choanal atresia and corneal erosion. Other possible congenital abnormalities may involve intestinal atresia and hexadactyly (Fig. 1) (Janecke et al. 2016; Ivanov and Novikova 2020). Due to its extreme rarity, the exact prevalence of this syndrome remains undetermined, with approximately 50 documented cases reported in the literature to date (Janecke et al. 2016, Ivanov and Novikova 2020). This syndrome may present symptoms as early as during pregnancy and in the neonatal stage (Ivanov and Novikova 2020).