Achondroplasia (OMIM #100800) is the most common form of non lethalskeletal dysplasiaThe condition has been recognised for centuries, with examples seen inart from ancient EgyptIt is a fully penetrant autosomal dominant disorder and the majority ofcases appear sporadically resulting from de novo mutation associatedwith advanced paternal ageThe phenotype of achondroplasia is related to a disturbance inendochondral bone formation, due to a mutation in the fibroblast growthfactor receptor-3 (FGFR3)