Orphan (rare) lung disease is defined as a disease or condition affecting fewer than 200,000 persons in the United States (Office of Rare Diseases, NIH). An estimated 25 million people in the United States have one of the more than 6000 orphan diseases. Thus orphan diseases pose a significant social burden not only in the United States but also worldwide. Orphan disease patients may experience difficulties in accessing high-quality health care for multiple reasons, including incorrect or delayed diagnosis, scarcity of relevant scientific knowledge and expertise, and lack of effective treatment. The failure to diagnose an orphan disease is generally due to a failure to consider the diagnosis in the initial evaluation. Thus the diagnosis of orphan diseases is facilitated by considering a broad differential diagnosis at the outset and the ability to recognize characteristic features associated with these disorders.
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