Adult Case of Stüve-Wiedemann Syndrome

Stüve-Wiedemann Syndrome (SWS) is a rare autosomal recessive skeletal dysplasia caused by variations in the leukemia inhibitory factor receptor (LIFR) gene. Due to its high rate of mortality in early life, current literature is largely limited to children with SWS. We present a case report of a 35-year-old female with SWS, one of the few documented adults with SWS. She was diagnosed at age 34 after clinical exome sequencing identified homozygous pathogenic variants in LIFR at c.756dup (p.Lys253*), a known pathogenic variant associated with SWS. Her past medical history consists of feeding and respiratory difficulties in infancy, recurrent fractures, a deep vein thrombosis of the upper extremity, osteoporosis, and an incidental finding of a brain aneurysm. Of note, she has undergone over 25 surgeries without complications from anesthesia. As an adult, her symptoms include heart palpitations, fatigue, restless leg syndrome, temperature dysregulation, poor dentition, and bone fragility. On physical exam, she displays short stature, blue sclera, kyphoscoliosis, significant loss of range of motion in multiple joints, and fusions in the fingers and toes. To our knowledge, she is the oldest reported individual in the literature with SWS, and her case provides insight into how symptoms evolve over time.