Undiagnosed and Rare Diseases are difficult to categorize in clinical practice

Undiagnosed and Rare Diseases are a group of complex entities usually difficult to categorize in clinical practice.

Parents  have a big challenge when they detect some development anomalies in their children because it is usually very difficult to categorize the problem. Health professionals, usually pediatricians, have also big difficulties to frame the anomalies inside a particular syndrome.

Searching for solutions

In order to help with this situation, some research centers have developed an electronic database to help families and patients to disentangle a complex clinical picture. Sometimes the access can be direct filling a questionnaire, but usually a health professional must be involved.

Two of these tools are:

1) Orphanet, based at the University of Marburg in Germany, is the most important platform at European level. It can be accessed through the link here.

2) Undiagnosed Diseases Network of the National Institutes of Health of United States. It can be accessed through the link here.

These tools, the first in Europe and the second in the United States, may be useful for health staff to identify complex clinical settings, which is important not only to avoid distress, but also because several of these entities have specific treatments that could change the evolution in a positive way.