In the recent nosology of genetic skeletal disorders [5], kyphomelic dysplasia is categorized within the bent bone dysplasia group among other entities namely, Campomelic dysplasia (OMIM# 114290), Cumming syndrome (OMIM# 211890), and Stuve–Wiedemann syndrome (OMIM# 601559), Kyphomelic dysplasia with facial dysmorphism, KIF5B related (OMIM# 614592), Bent bone dysplasia, FGFR2 related (OMIM# 614592), Bent bone dysplasia, LAMA5 related (OMIM# 620076). The gene discussed is KIF5B; the disease is kyphomelic dysplasia.