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April 24, 1996

Physicians' Guide to Rare Diseases

Author Affiliations

North Suburban Clinic Vernon Hills, Ill

JAMA. 1996;275(16):1286. doi:10.1001/jama.1996.03530400074043

This article is only available in the PDF format. Download the PDF to view the article, as well as its associated figures and tables.


A limited number of books are required in the physician's library. Physicians' Guide to Rare Diseases is one of them. It is not for casual reading, but rather is an important tool for the diagnosis of disorders the average clinician might not see more than a few times in a career.

I was fortunate to have reviewed the first edition for THE JOURNAL in 1992. This second edition expands on the first, updating information and introducing new subject matter. I favorably reviewed the first edition and can say without reservation that the second is better in many ways.

The book considers as rare all diseases that are present in fewer than 200 000 Americans. Any such disease might never be seen by a clinician in practice.

Rare Diseases contains a preface, a chapter on alternative medicine, 13 subsections, and a "Master Resources List," "Directory of Orphan Drugs," "Atlas of Visual