Stüve-Wiedemann syndrome (SWS) is a congenital bone dysplasia characterised by small stature, congenital bowing of the long bones and campodactyly.Last update: March 2006
It is a rare syndrome with few cases reported in the literature.
Patients present with serious complications including respiratory distress and recurrent episodes of unexplained hyperthermia. Radiographic studies reveal short and broad long bones, large metaphyses, internal cortical thickening, and angulation primarily of tibiae and femora, but also of humeri and forearm bones. The majority of patients die during the neonatal period as a result of respiratory distress or a hyperthermic episode. However, rare cases of survival beyond the first year of life have been reported. These patients show a characteristic phenotype that includes progressive scoliosis, spontaneous fractures, lack of corneal and patellar reflexes, smooth tongue and neurological symptoms reminiscent of dysautonomia.
The condition is transmitted as an autosomal recessive trait and is caused by null mutations in the leukaemia inhibitory factor receptor (LIFR) gene located on chromosome 5p13. The mutations lead to modifications in the stability of the LIFR transcripts, inhibiting synthesis of the LIFR protein and resulting in alterations in the JAK/STAT3 signalling pathway.
At present, treatment is symptomatic only.