When Should a Pediatrician Suspect a Rare Disease?

The medical precept “When you hear hoofbeats, think of horses, not zebras” emphasizes the importance of considering common diagnoses over rare diseases. However, primary care pediatricians often encounter rare diseases in their practice, posing a challenge in knowing when to suspect them. Diagnostic delays, diagnostic tests’ cost, and the desire to reassure parents can complicate this process. Education, clinical suspicion based on symptoms’ intensity or unusual evolution, and consideration of family history or endogamy in certain communities are crucial in detecting rare diseases. Early recognition and appropriate referrals can lead to timely interventions and improved outcomes for patients with rare diseases.

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