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The diagnostic odyssey for children with rare rheumatic diseases can be shortened by recognizing key clinical clues early. Improved diagnostic strategies and referral pathways are essential to reduce patient suffering and improve outcomes.

Rare disease research offers an untapped reservoir of insights, potentially reshaping how we understand and treat pediatric rheumatology . Integrating multi-omics approaches could redefine diagnostic precision and therapeutic strategies for complex diseases.

Families bear a disproportionate burden from rare pediatric diseases. Strategic investment in research offers both humanitarian and economic returns.