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Updated: Jan 4 2026

Arthrogryposis

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https://upload.orthobullets.com/topic/4088/images/arthrogry.jpg
  • summary
    • Arthrogryposis is a non-progressive congenital disorder of unknown etiology that presents with multiple rigid joints leading to stiffness and severe limitation in motion in all 4 limbs.
    • Diagnosis is made clinically with presence of concomitant elbow and knee hyperextension contractures, shoulder internal rotation contractures, hands with intrinsic plus deformity and severe limitation in range of motion of all 4 limbs. Genetic and enzyme testing can be helpful in supplementing diagnosis.
    • Treatment is a multidisciplinary approach to address joint stiffness in all 4 limbs with a trial of bracing and casting followed by surgical soft tissue release or osteotomies as necessary. 
  • Epidemiology
    • Incidence
      • 1:3000 live births
  • Etiology
    • Mechanism
      • symmetry of contractures due to immobilization in utero
        • neurogenic (90%)
        • myopathic (10%)
    • Pathophysiology
      • exact mechanism unknown
        • some mothers have serum antibodies inhibiting the fetal acetylcholine receptors leading to a decreased number of anterior horn cells
    • Associated conditions
      • orthopaedic manifestations
        • upper extremity deformity 
        • teratologic hip subluxation and dislocation
        • knee contractures
        • neuromuscular C-shaped scoliosis (33%)
        • fractures (25%)
  • Prognosis
    • Nonambulatory (25%)
  • Classification
      • Arthrogryposis classification 
      • Type I
      • Single localized deformity (e.g., forearm pronation)
      • Type II
      • Full expression (absence of shoulder muscles, thin limbs, elbows extended, wrists flexed and ulnarly deviated, intrinsic plus deformity of hands, adducted thumbs, no flexion creases)
      • Type III
      • Full expression (type II) with polydactyly and involvement of non-neuromuscular systems
  • Presentation
    • Physical exam
      • inspection & palpation
        • shoulders adducted and internally rotated (absense of shoulder muscles)
        • elbows extended (no flexion creases)
        • wrists flexed and ulnarly deviated
        • hands with intrinsic plus deformity
        • thumb adducted
        • knees extended (classical), most of the time flexed
        • clubfeet
        • normal intelligence, facies, sensation, and viscera
      • range of motion
        • severely limited usually involving all four extremities
  • Studies
    • Perform at 3-4 months of age
      • neurologic studies
      • enzyme tests
      • muscle biopsies
  • Upper Extremity Deformity
    • Treatment
      • goals
        • allow optimal function to increase ability to drive an electric chair and use computer assisted devices
        • one elbow in extension for positioning and perianal care and one elbow in flexion for feeding
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Question
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Pediatrics⎪Arthrogryposis
  • Pediatrics
  • - Arthrogryposis
11:29 min
10/15/2019
1014 plays
5.0
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