Abstract
Achondroplasia is the most common form of genetically inherited dwarfism. Affected individuals are mainly characterized by severely shortened arms and legs and a large head. In 1878, the term achondrodysplasia was coined by the French physician Joseph Marie Jules Parrot. The term achondroplasia is purely historical and does not explain the cause or manifestations of this disorder. Achondroplasia is the most common form of genetically inherited dwarfism, occurring with an incidence of 1 in 20,000 births. Therefore, like all types of dwarfism, it is considered a rare disease. The diagnosis is made through genetic testing. Achondroplasia is the result of a point mutation in the fibroblast growth factor receptor gene FGFR-3. This mutation disrupts cartilage formation; the bone growth zone is prematurely ossified, leading to a restriction of length growth, especially in the arms and legs. This results in disproportionate dwarfism, where the trunk and head are relatively longer than the limbs. In 96% of cases, there is a G (1138) A point mutation in the FGFR-3 gene, leading to an amino acid exchange at position 380 of the protein, changing glycine to arginine (Gly380Arg). In 3% of cases, a G (1138) C point mutation can be detected, which also results in a glycine-to-arginine exchange. Achondroplasia is inherited in an autosomal dominant manner, meaning it can only be passed on by individuals who are affected themselves. This is the case in about 20% of children born with achondroplasia. In the remaining approximately 80%, there is a de novo mutation in the FGFR3 gene. Current research in achondroplasia is focused on developing therapies to reduce FGFR3 receptor overexpression and excessive signals and therefore inhibit chondrocyte formation to treat achondroplasia. This editorial focus on recent therapeutic progress to treat achondroplasia in children.