In contrast, for several other genes (e.g., FGFR3 and NSD1) a loss of function is associated with tall stature (CATSHL syndrome and Sotos syndrome, respectively), and gain of function with short stature (FGFR3 and CDKN1C; Achondroplasia and Silver-Russell syndrome) (2). The gene discussed is NSD1; the disease is Camptodactyly - tall stature - scoliosis - hearing loss.