Despite their individual rarity, rare diseases collectively impact millions of individuals worldwideapproximately 4-6% of the worldwide population, equivalent to from 300 to over 400 million people. These conditions often present unique challenges due to their unfamiliarity, limited treatment options, and the difficulties associated with diagnosis. One of the primary challenges associated with rare diseases is their diagnosis. Due to their rarity and often complex clinical presentations, rare diseases are frequently misdiagnosed or undiagnosed altogether. This diagnostic struggle can be emotionally and financially difficult for patients and their families, leading to delays in appropriate treatment and care.