Surfactant is a complex mixture of phospholipids, neutral lipids and specific surfactant-associated proteins. Genetic diseases associated with gene mutations of surfactant proteins are rare, and treatment options for these children are currently limited. The article presents modern information on congenital deficiency of surfactant protein C, its genetics, pathogenesis, histological patterns, clinical and radiological manifestations in children and adults, outcomes and therapy. It also provides clinical observations of first three pediatric patients in the Russian Federation with this disease, including a rare manifestation in the form of primary pulmonary alveolar proteinosis. © 2018, Pediatria Ltd. All rights reserved.