A 3-year-old girl with disproportionate short stature was initially diagnosed with achondroplasia due to a maternally inherited pathogenic FGFR3 variant (FGFR3, NM_000142.5: c.1138G > A, p.Gly380Arg), that also affected her older brother (Fig. 1a). Here, FGFR3 is linked to achondroplasia.