Orthopaedic aspects of mucopolysaccharidoses

Rheumatology (Oxford). 2011 Dec:50 Suppl 5:v26-33. doi: 10.1093/rheumatology/ker393.


Skeletal abnormalities are an early and prominent feature of most mucopolysaccharide (MPS) disorders, with the degree of skeletal involvement varying between and within MPS subtypes. Most patients exhibit a constellation of radiographic abnormalities known as dysostosis multiplex, consisting of abnormally shaped vertebrae and ribs, enlarged skull, spatulate ribs, hypoplastic epiphyses, thickened diaphyses and bullet-shaped metacarpals. Thoracolumbar kyphosis or the gibbus deformity is often a key diagnostic clue. Also common are hip dysplasia, genu valgum and, later in the course of the disease, spinal cord compression, which can be life-threatening. Short stature is ubiquitous. Treatment of skeletal manifestations usually involves surgical intervention. All patients with MPS should be considered at high risk for surgical intervention requiring anaesthesia because of airway and cardiac disease manifestations. Regular imaging of the cervical, thoracic and lumbar spine, the hips and the lower extremities is recommended for patients with MPS.

Publication types

  • Review

MeSH terms

  • Bone Diseases / complications
  • Bone Diseases / diagnosis*
  • Dysostoses / etiology
  • Genu Valgum / etiology
  • Growth Disorders / etiology
  • Hip Dislocation, Congenital / etiology
  • Humans
  • Kyphosis / etiology
  • Mucopolysaccharidoses / complications
  • Mucopolysaccharidoses / diagnosis*
  • Spinal Cord Compression / etiology
  • Surgical Procedures, Operative / adverse effects