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.