To review the literature, a search was conducted in the PubMed electronic database using the following search criteria: cephalometric analysis and short stature; cephalometric analysis and achondroplasia; cephalometric analysis and hypochondroplasia; cephalometric analysis and skeletal abnormalities; cephalometr* and SHOX; cephalometr* and CNP; cephalometr* and ACAN; cephalometr* and CNVs; cephalometr* and IHH; cephalometr* and FGFR3; cephalometr* and Noonan syndrome; cephalometr* and Turner syndrome; cephalometr* and achondroplasia. The gene discussed is FGFR3; the disease is achondroplasia.