Mutations in the STAT5B (Kofoed et al, 2003), IGF‐I (Woods et al, 1996) and IGF‐I receptor (IGF‐IR) (Abuzzahab et al, 2003) genes cause varying degrees of pre‐ and postnatal growth retardation and mutations in ALS cause mild short stature (Domene et al, 2004). The gene discussed is IGF1R; the disease is amyotrophic lateral sclerosis.