Year: 2026
Type: review
Abstract: Mucopolysaccharidosis (MPS) is a group of lysosomal storage disorders caused by deficiencies in cellular enzymes, resulting in the accumulation of glycosaminoglycans. The orthopaedic clinician and multidisciplinary team must recognize a wide array of pathology due to accumulation within bones, joints, the tenosynovium, and growth plates. The sequelae can include growth deficiency, carpal tunnel compression, trigger finger, hip dysplasia, limb malalignment, C1-2 instability, and thoracolumbar kyphosis with possible spinal cord compression or tracheal obstruction. This current concept review aims to summarize pertinent orthopaedic findings for patients with known MPS. Key Concepts: (1)Mucopolysaccharidosis (MPS) is a family of lysosomal storage disorders that result in glycosaminoglycan accumulation, leading to progressive tissue deterioration.(2)In the undiagnosed patient, phenotypic features include coarse facies, macroglossia, flat nasal bridge, short stature, limb deformities, and joint pathology.(3)The skeletal manifestations of MPS can include hip dysplasia, genu valgum, ankle valgus, thoracolumbar gibbus deformity, and cervical spine stenosis and instability with risk of spinal cord compression.(4)In the upper extremity, carpal tunnel syndrome and the development of trigger fingers require close surveillance by physical exam, ultrasound, and electrodiagnostic studies.(5)Longitudinal surveillance for these patients is warranted for orthopaedic and nonorthopaedic sequelae, with judicious airway and spinal cord monitoring for operative procedures.(6)Timely operative intervention is imperative, especially for spinal cord compression and for the timing of deformity corrections.
Institution: Seattle Children's Hospital
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,500
OpenAlex ID: W7213580136