rare diseases

Rare diseases are characterized by a low prevalence in the population. In Europe, the determining threshold would be 1 person affected out of 2,000.

Worldwide, there are between 7,000 and 8,000 rare diseases currently listed, 80% of them genetic and commonly known as rare metabolic diseases or congenital diseases. Some, for example cystic fibrosis, congenital hypothyroidism, leukinosis are screened between the third and fifth day of life through neonatal screening programs. At first asymptomatic, these disorders have long-term effects on the child’s normal development. Without prompt detection and adequate management, the newborn’s chances of developing normally are reduced.