In 1982, Stankler et al. reported a new disorder in a sister and brother with severe neonatal diarrhea, dysmorphic features, and abnormal hair termed “trichorrhexis blastysis” for the first time. These siblings died at 33 and 87 days of age (Stankler et al. 1982). Later in 1997, Verloes et al. named it “Tricho-hepato-enteric syndrome” (Verloes et al. 1997). Trichohepatoenteric Syndrome (THES) is a rare genetic disorder that typically presents in the neonatal period with persistent, intractable diarrhea, leading to severe failure to thrive despite nutritional support. This syndrome characterized by distinctive hair abnormalities (woolly, lightly pigmented, brittle hair with trichorrhexis nodosa), hepatic dysfunction, facial dysmorphism, intrauterine growth restriction, and short stature (Fig. 1). Additional features include immune system abnormalities with recurrent infections, and skin manifestations. Approximately half of affected individuals present with intellectual disability (Fabre et al. 1993, 2018; Mahjoub et al. 2016). The estimated prevalence is 1 in 1,000,000 live births (Lee et al. 2024).