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Updated: Jun 16 2021

Multiple Epiphyseal Dysplasia (MED)

Images - knee - col_moved.jpg
  • summary
    • Multiple Epiphyseal Dysplasia is a congenital disorder caused most commonly by an autosomal mutation in cartilage oligomeric matrix protein on chromosome 19. Patients present with a form of dwarfism characterized by irregular, delayed ossification at multiple epiphyses.
    • Diagnosis is made radiographically with presence of irregular, delayed ossification at multiple epiphyses. 
    • Treatment is usually physical therapy and pain management. Surgical osteotomies and arthroplasty are indicated in patients with progressive deformity or degenerative joint disease.
  • Epidemiology
    • Prevalence
      • approximately 1:10000
    • Diagnosis
      • presents between age 5-14 years of age
    • Anatomic location
      • caused by failure of formation of secondary ossification center (epiphysis)
  • Etiology
    • Pathophysiology
      • delay of epiphyseal endochondral ossification
      • lack of osseous support yields secondary articular cartilage deformity
      • most commonly affects proximal femur and proximal humerus
    • Genetics
      • autosomal dominant is most common
        • mutation in COMP (cartilage oligomeric matrix protein) gene on chromosome 19 (most common and most severe form)
        • mutations type IX collagen
          • COL9A1, COL9A2, COL9A3
          • causing type II collagen dysfunction because of type IX collagen acts as a link protein for type II collagen
            • necessary for healthy articular cartilage
        • Mutation in Matrillin 3
      • may also be autosomal recessive
        • mutation in SLC26A2 (diastrophic dysplasia sulfate transporter gene)
        • presents with at least one finding at birth
          • clubfoot, cleft palate, clinodactyly
      • up to half of patients with clinical diagnosis of MED do not have the typical genetic mutations
  • Presentation
    • Symptoms
      • short-limbed, disproportionate dwarfism
      • joint pain
      • waddling gait
    • Physical exam
      • joint deformities from joint incongruity
        • hips are most common joint involved
        • valgus knee deformity common
        • early OA
      • joint contractures
      • short, stubby fingers and toes
      • normal neurologic exam
      • normal intelligence
      • spine is normal
      • normal facies
  • Imaging
    • Radiographs
      • general findings
        • demonstrate irregular, delayed ossification at multiple epiphyses
        • may also demonstrate multiple osteochondritis dissecans lesions
      • hip
        • may show bilateral proximal femoral epiphyseal defects
          • distinguished from Legg-Calve-Perthes disease by its symmetric and bilateral presentation, early acetabular changes, and lack of metaphyseal cysts
          • when bilateral Legg-Calve-Perthes is suspected, perform skeletal survey of other joints to rule out MED
        • concurrent avascular necrosis of femoral head
        • acetabular dysplasia
      • knee
        • valgus knee
        • flattened femoral condyles
        • double layer patella
      • hand
        • may show short, stunted metacarpals
        • hyperextensible fingers
      • foot
        • short metatarsals
  • Differential
    • Spondyloepiphyseal dysplasia 
      • distinct in that it also involves the spine
      • typically with a sharp curve
      • atlantoaxial instability
      • cervical myelopathy
      • mutation in type II collagen
  • Treatment
    • Nonoperative
      • NSAIDS and physical therapy
        • indications
          • early OA
      • childhood hip deformities such as acetabular dysplasia often resolve by skeletal maturity
    • Operative
      • realigning osteotomy or hemiepiphysiodesis at the knee
        • indications
          • progressive genu varum or valgum
      • total hip arthroplasty
        • indications
          • severe arthritis may present by age 30
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