Authors
Novikov P. V.
Moscow Research Institute for Pediatrics and Pediatric Surgery
Abstract
The article presents modern data on rare (orphan) hereditary and congenital diseases, gives the definitions, considers approaches to assessing the incidence and prevalence of diseases, the existing problems in the diagnosis and treatment of rare diseases in the world and in our country. Introduced are lists of hereditary diseases and syndromes classified as rare. The most urgent problems of rare diseases requiring urgent solutions are addressed.
Key words
rare (orphan) hereditary diseases, frequency, prevalence of rare diseases, clinical polymorphism, genetic heterogeneity, health care organization
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