Introduction:

Rare diseases are the conditions of low prevalence associated with orphan drugs and they represent a global health and social problem.

Objective:

To review the most outstanding aspects related to rare diseases, with a gastroenterological view, and their impact on childhood.

Methods:

Unstructured searches for publications in Spanish and English in PubMed, Google Scholar, Scimago, SciELO were conducted, from January 2010 to August 2021. The terms rare diseases, conceptualization, prevalence, epidemiology, orphan drugs and ethics were used.

Analysis and synthesis of information:

Rare diseases in childhood, conceptual criteria, global epidemiology, and the most well-known diseases with emphasis on gastroenterology were reviewed. Prevalence, genetic link, social importance, diagnostic dilemma and categories, also the impact of orphan drug treatments, their costs and ethical problems were highlighted. The incidence of digestive diseases and the value of endoscopy and biopsy in diagnosis were highlighted.

Conclusions:

Rare diseases in childhood were documented and analyzed as a global health and social problem. The development of technique and science were decisive contributions that varied criteria on different conditions classified as rare.

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