Diagnosing rare conditions in pediatrics requires a high index of suspicion and often, a systematic approach:
1. Detailed History and Examination: A meticulous [clinical history](https://) and thorough physical examination can provide clues that suggest a rare condition.
2. Referral and Collaboration: Collaborating with specialists and referring to tertiary care centers can be essential for diagnosing and managing rare conditions.
3. Genetic Testing: Advances in genetic testing have made it easier to diagnose many rare genetic disorders. Knowing when to order these tests is crucial.
