Stuve-Wiedemann syndrome, originally described in 1971, is a rare abnormality that belongs to the group of the bent-bone dysplasias and is characterized by bowing of the lower limbs, with internal cortical thickening, wide metaphyses with abnormal trabecular pattern, and campodactyly. Additional features include feeding and swallowing difficulties, as well as respiratory distress and hyperthermic episodes, which cause death in the first months of life. The rare survivors develop progressive scoliosis; spontaneous fractures; bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability; absent corneal and patellar reflexes; and smooth tongue.
This syndrome has been considered uniformly lethal until reports presented cases of patients surviving beyond three years. Some of these survivors were diagnosed as patients with Schwartz-Jampel type 2 syndrome. In addition to this, clinical and radiological overlap with Schwartz-Jampel type 2 syndrome has suggested that Stuve-Wiedemann syndrome and Schwartz-Jampel type 2 syndrome could be a single entity.
There is evidence that Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome is caused by mutation in the leukemia inhibitory factor receptor gene. The leukemia inhibitory factor is a polyfunctional cytokine that affects the differentiation, survival, and proliferation of a wide variety of cells in the adult and the embryo.