Anaesthesia recommendations for patients suffering from Stuve-Wiedemann syndrome

Stuve-Wiedemann syndrome (SWS) is an autosomal recessively inherited disorder characterised by congenital skeletal dysplasia, and life-threatening autonomic nerve dysfunction. SWS is caused by a mutation in the leukemia inhibitory factor receptor (LIFR;151443) gene on chromosome 5p13.1. SWS has been reported in different ethnic groups including Europeans, North Africans, Gypsies and Arabs. However, it seems to be particularly common in the United Arab Emirates. Clinical characteristics of SWS include bowing of the long bones (bent-bone dysplasia), camptodactyly, deformities of joints and extremities, facial dysmorphism, hypotonia, growth retardation, and difficulties with feeding and swallowing. The clinical course is generally complicated by unexpected hyperthermic episodes, respiratory insufficiency and feeding difficulties. Therefore, the disease is associated with a poor life expectancy and most patients die early in life.