Abstract
RATIONALE: Stüve-Wiedemann syndrome (SWS) is a rare, severe autosomal recessive disorder (#OMIM 601559) caused by pathogenic variants in the LIFR gene. It is characterized by skeletal dysplasia and dysautonomia and carries a high mortality rate in infancy, which decreases significantly after the age of 2. Detailed case descriptions enhance understanding of this rare condition. PATIENT CONCERNS: We report a male, full-term infant born to consanguineous Yemeni parents with no family history of genetic disorders. Prenatal ultrasound revealed short, bowed long bones suggestive of skeletal dysplasia. At 12 hours of age, the infant developed respiratory distress, poor sucking, and an agitated cry. At 48 hours, he experienced unexplained hyperthermia, and a comprehensive septic workup was negative. DIAGNOSES: Initial findings included generalized hypotonia, hyporeflexia, and dysmorphic features (micrognathia, camptodactyly, short, and bowed limbs). Radiographic imaging revealed skeletal abnormalities. Whole exome sequencing identified a novel homozygous pathogenic variant in the LIFR gene (c.2257dup p.(Arg753Lysfs*20)), confirming the diagnosis of autosomal recessive SWS type 1. INTERVENTIONS: The infant was admitted to the neonatal intensive care unit, received nasal oxygen support, and was managed with orogastric tube feeding due to poor sucking and swallowing. OUTCOMES: At 5 months, the infant remains dependent on orogastric tube feeding, with less frequent hyperthermic episodes. LESSONS: SWS is a rare genetic disorder with a wide phenotypic spectrum. Early recognition and multidisciplinary management are crucial to addressing the high mortality risk associated with dysautonomia in infancy. Case reports of novel variants contribute to a deeper understanding of SWS and highlight the importance of tailored clinical care for improved outcomes.