Stüve-Wiedemann syndrome

Stüve-Wiedemann syndrome (SWS), also known as Stüve-Wiedemann dysplasia or Schwartz-Jampel syndrome type 2, is a rare congenital skeletal disorder characterized by bowing of the long bones, camptodactyly (permanently bent fingers), and life-threatening episodes of hyperthermia (dangerously elevated body temperature). The condition is caused by mutations in the LIFR gene (leukemia inhibitory factor receptor), which plays a critical role in bone development and autonomic nervous system function. SWS primarily affects the skeletal system, the autonomic nervous system, and the respiratory system. Key clinical features present at birth include short stature, bowed long bones (particularly the femora and tibiae), cortical thickening of long bones, metaphyseal flaring, and joint contractures. Affected infants frequently experience respiratory distress, feeding difficulties, and recurrent episodes of unexplained hyperthermia due to autonomic dysfunction. Smooth tongue, absent or reduced corneal and patellar reflexes, and myotonia may also be observed. Many affected infants die in the first months of life due to respiratory failure or hyperthermic crises. Those who survive infancy may develop progressive scoliosis, spontaneous fractures, and jaw abnormalities. There is currently no cure or disease-specific treatment for Stüve-Wiedemann syndrome. Management is supportive and multidisciplinary, focusing on monitoring and controlling body temperature, respiratory support, nutritional assistance, orthopedic interventions for skeletal complications, and physical therapy. Genetic counseling is recommended for affected families. Early recognition and proactive management of hyperthermic episodes and respiratory complications are critical to improving survival in affected infants.

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