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NORD’s Physician Guides is a free service of the National Organization for Rare Disorders (NORD) and
its medical advisors.

For many years, patients and families affected by rare medical conditions felt alone and unheard.
That is no longer the case. Advances in the body of knowledge related to rare diseases, and a
growing recognition that these diseases collectively affect millions of Americans, are driving
significant progress in the development of diagnostic tools and treatments.

The purpose of the NORD Online Physician Guides is to provide a resource for clinicians about
specific rare disorders to facilitate the timely diagnosis and treatment of their patients. Family
physicians, pediatricians and other primary care providers play an important role in early identifica-
tion and long-term management of patients with rare diseases. It is important for specialist and
generalist alike to remain as current as possible in awareness of rare medical conditions.

Physician Guides

The lack of a timely and accurate diagnosis is a major problem for many patients with rare diseases. NORD works with leading medical experts to create disease-specific guides for physicians and other healthcare professionals to reduce time to diagnosis and promote optimal treatment for patients.

NORD Physician Guides are made possible by educational grants or sponsorship. NORD and the authors are solely responsible for the content. The guides are free and available to pediatricians, family physicians and other clinicians worldwide on