In conclusion, we identified a previously unreported de novo MAPRE2 variant in the calponin homology domain in a Chinese patient diagnosed as CSCSC2 with additional clinical features including normal to mild overgrowth, instead of previously reported growth delay, which expanded the clinical and genetic spectrum of MAPRE2‐related CSCSC. The gene discussed is MAPRE2; the disease is multiple benign circumferential skin creases on limbs.