The term «rare diseases» was introduced in the seventies of the last century, especially in the field of hereditary metabolic diseases or inborn error of metabolism. The European Union defines rare diseases as those with a prevalence of less than 5 per 10,000 inhabitants. According to that definition, an estimated 30 million people in the EU-27 are affected.

It is estimated that  about 90% of rare diseases are genetic, mainly monogenetic.

Despite having quite low prevalence separately,  together they represent a fairly significant group. Enormous progress in diagnostic possibilities made ​​rare diseases an important issue in medicine.

Diversity is an intrinsic characteristic in a group of rare diseases. The nature of the pathological processes varies from diseases that affect a single organ system to multisystem diseases. The people who suffer from these diseases have, in majority serious, chronic, progressive disorders that can appear at early age as well as in adulthood. Therapeutic options for rare diseases are scarce and not very effective. That care must be considered in a context of global management, involving pediatrics  and the specialties that understand the specific clinical problems, nursing and physiotherapy, social services and psychological support.

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