[Rare diseases, definitions and epidemiology].
There are between 6 000 to 8 000 rare diseases, of which 80% are of genetic origin. Most of them appear very early in life. Patients and their families are faced with diagnostic delays, inadequate management as well as a lack of information and resources.A large number of these pathologies are also sometimes called orphan diseases because the populations concerned do not find any treatments.
Alliance Maladies Rares, Plateforme Maladies Rares, 96, rue Didot, 75014 Paris, France.
Alan
A
Donnart
Viviane
V
Viollet
Marie
M
Roinet-Tournay
D057210:Delayed Diagnosis; D015316:Genetic Therapy; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D009965:Orphan Drug Production; D035583:Rare Diseases / Q000175:diagnosis* / Q000453:epidemiology* / Q000209:etiology / Q000628:therapy*