Based on the linked source; automatically prepared and checked against the original report.
Rare genetic disorder
Spondyloepimetaphyseal dysplasia with joint laxity type 3 is a rare autosomal-recessive skeletal disorder caused by pathogenic variants in the EXOC6B gene. It affects bone and joint development and is associated with generalized joint laxity, recurrent dislocations, and short stature from early childhood.
Patient and diagnosis
The report concerns a 16-year-old Saudi girl with severe involvement of both hips and knees since early childhood. She was non-ambulatory and dependent on a wheelchair before intervention. Whole-genome sequencing identified a pathogenic EXOC6B variant, confirming the reported diagnosis of SEMD-JL3.
Staged orthopedic intervention
The surgical plan consisted of bilateral total hip arthroplasties followed by bilateral total knee arthroplasties. After surgery, the patient showed marked pain reduction and improved mobility, ultimately regaining the ability to walk with support. The authors describe this as the first documented report of SEMD-JL3 managed surgically in Saudi Arabia. The available record summarizes an abstract rather than the full paper and does not establish treatment recommendations.
