Novel Genetic Findings in Stuve-Wiedemann Syndrome: A Case Report and Review of Literature.

Stuve-Wiedemann Syndrome (SWS) is a rare autosomal recessive condition, first reported in 1971 by Stuve and Wiedemann. It is associated with pathogenic or likely pathogenic homozygous or compound heterozygous variants in the Leukemia Inhibitory Factor Receptor (LIFR) gene. The condition is characterized by skeletal abnormalities, including bowed long bones and joint contractures, as well as severe dysautonomia due to defects in the ciliary neurotrophic factor receptor pathway, which leads to life-threatening complications such as hyperthermia, respiratory distress, and feeding difficulties, resulting in a high early mortality rate. We report a 5-month-old girl with dysmorphic features, hypotonia, bent long bones, bouts of hyperthermia, and failure to thrive. DNA analysis showed a homozygous pathogenic variant in the LIFR gene consistent with Stuve-Wiedemann Syndrome (SWS). SWS is a rare autosomal recessive disorder characterized by autonomic dysfunction and bent-bone dysplasia due to pathogenic homozygous or compound heterozygous variants in the LIFR gene. Management is currently supportive, and further research is required to improve treatment and prognosis.