The Dentist's Role in Detecting Orphan Diseases in Children

Orphan diseases pose a significant problem for clinical medicine due to their rarity, clinical heterogeneity, and genetic variability. Diagnosis is particularly complex in pediatric dentistry, where oral manifestations may be the first or even the only signs of systemic pathology. This article presents two clinical cases of patients with rare genetic disorders – hereditary hypomagnesemia with secondary hypocalcemia and hypomelanosis of Ito – both accompanied by pronounced dental symptoms. The importance of early identification of oral signs, interdisciplinary collaboration, and genetic diagnostics is emphasized.