This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Stuve-Wiedemann syndrome (STWS) is a congenital skeletal (bone) dysplasia characterized by small stature, bowing of the long bones, and other skeletal anomalies. Patients often present with serious complications such as breathing and feeding difficulties and episodes of hyperthermia (elevated body temperature). The condition is transmitted in an autosomal recessive fashion and appears to be caused by mutations in the leukemia inhibitory factor receptor gene (LIFR). STWS is often fatal during the neonatal period due to respiratory distress or hyperthermic episodes.  However, some patients do survive to adolescence and beyond. Survivors may develop spinal deformities, spontaneous fractures, bowing of the lower limbs, prominent joints, and dysautonomia symptoms (including temperature instability). Treatment is mainly symptomatic and should include efforts to prevent choking, physical therapy and/or surgery to address bone abnormalities, efforts to prevent vision loss, and treatment for osteopenia or osteoporosis. Caution should be exercised when using anesthesia due to the predisposition to hyperthermia.
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