[Updated treatment of achondroplasia]

In achondroplasia, the mutation is an almost non-variable mutation in the transmembrane part of the receptor, G1138A/C, giving rise to a change in the amino acid sequence at position 380 in the protein (glycine to an arginine residue transition- Gly380Arg [G380R] . In hypochondroplasia, about 30-70% of individuals have been reported to be heterozygous for a mutation in the FGFR3 gene. The most common mutation found is the Asn540Lys (asparagine to lysine transition-N540K) in the intracellular tyrosine-kinase (TK1) region. GH Treatment significantly increased height, growth velocity and z-score of growth velocity GH therapy was more effective in hypochondroprasia than in achondroplasia. Increasing stature in individuals with skeletal dysplasias can also be accomplished by surgical leg lengthening.