Conceptualizing a rare disease

What are the characteristics that define a syndrome or disease as rare?


According to the World Health Organization (WHO), a rare disease is a condition that affects up to 65 out of every 100,000 people.

In Brazil there are an estimated 13 million people with rare diseases.

There are six to eight thousand rare disease types, for which 30% of patients die before the age of five; 75% of them affect children and 80% are of genetic origin. Some of these diseases manifest themselves from bacterial or viral infections, allergic and environmental causes, or are degenerative and proliferative.

According to the Ministry of Health, there are currently around 240 services in Brazil that offer assistance and diagnosis. However, because these are rare diseases, their diagnose is usually late. In addition, patients generally encounter difficulties getting access to treatment