What is Stuve Wiedemann syndrome (SWS)?
SWS is a genetic disorder caused by changes (also called mutations or pathogenic variants) in the two copies of the LIFR gene. Main clinical manifestations include progressive skeletal deformities, some facial similarities among the affected individuals and dysautonomia that include poor temperature regulation and reduced pain sensation. Other observed characteristics are respiratory distress, feeding problems and poor dentition. Cognition is normal.
It was initially considered as a lethal disorder during the newborn period but nowadays several childhood survivors have been reported.
How many people are affected by Stuve Wiedemann syndrome?
The worldwide prevalence of Stuve Wiedemann syndrome is unknown but an estimate of 0,5/10000 births has been calculated in the United Arab Emirates.
Inheritance
SWS is inherited in an autosomal recessive manner. This means that affected individuals have two mutations, one in each copy of the gene, inherited from each parent (asymptomatic carriers). This is especially important to consider in consanguineous marriages, where the chance of both parents having the same mutation and passing it is greater.
Management
To date there is no cure for this disease so treatment is symptomatic and multidisciplinary.
LIFR