Objective To summarize the etiology and clinical features of Mounier-Kuhn syndrome (MKS) so as to enhance the acknowledgement of MKS. Methods Three cases of MKS were reported and the keywords with " Tracheobronchomegaly”, " Mounier-Kuhn syndrome” were analyzed through the mode of literature retrieval in CNKI, VIP and Pubmed databases. Results There were 214 cases around the world including 14 cases of MKS in China. With unknown etiology and non-specific clinical feature, MKS is characteristic with congenital absence of tracheal or bronchial elastic tissue. MKS is diagnosed with remarkably dilated trachea and bronchus through chest CT or bronchofibroscope, accompanied with genetic defects. The ratio of men to women is 8.5 to 1. There is no radical cure. Symptomatic treatment and surgical treatment when necessary could be available. Conclusions MKS is a rare progressive hereditary disease, irrelevant to smoking and sharing a similar cause with generalized elastolysis, which need pay much attention to the physical examination of skin or elastic tissue. The diagnosis of MKS should be based on not merely airway diameter but also the overall clinical, pathologic, and radiologic profile.