70% of Genetic Rare Diseases Start in Childhood

70% of genetic rare diseases start in childhood. Many rare diseases may result in the premature death of infants or can be fatal in early childhood.

80% of children with achondroplasia are born to parents without the condition as the result of a change in the gene (mutation) that causes it to not function properly.

Children with achondroplasia are at a nearly 50 times higher risk of sudden infant death syndrome than the general population, with cervicomedullary compression identified as the likelty cause of many of these excess deaths. (2021 Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history. Bone, 146, 115872.)

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