V nastoyashchee vremya vo mnogikh stranakh mira prinyaty razlichnye yuridicheskie dokumenty po uchyetu, diagnostike i lecheniyu tak nazyvaemykh orfannykh (redkikh) bolezney. V Rossiyskoy Federatsii takovymi schitayutsya zabolevaniya, vstrechayushchiesya v 1 sluchae na 10 000 grazhdan v obshchey populyatsii. Eti bolezni redki, no sredi nikh mnogo, trebuyushchikh srochnoy diagnostiki i lecheniya s rozhdeniya i, neredko, v techenie vsey zhizni. Postanovleniem Pravitel'stva Rossiyskoy Federatsii k takovym poka otneseny 24 bolezni. Eti zabolevaniya yavlyayutsya sotsial'no znachimymi, oni dolzhny byt' vzyaty na gosudarstvennyy dispansernyy uchyet i dlya ikh diagnostiki i lecheniya neobkhodimo vydelyat' znachitel'nye sredstva. Orfannye bolezni dolzhny izuchat'sya na 5-6 kursakh meditsinskikh vuzov. Im dolzhno byt' udeleno dostatochnoe vnimanie, poskol'ku ryad iz nikh yavlyayutsya zhizneugrozhayushchimi i prakticheskiy vrach dolzhen imet' znaniya po etim boleznyam. Dlya prepodavateley, studentov 5-6 kursov meditsinskikh vuzov i vrachey ryada spetsial'nostey.