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Updated: Jun 16 2021

Down Syndrome

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https://upload.orthobullets.com/topic/4104/images/aa_instability_downs.jpg
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  • summary
    • Down Syndrome is a common congenital disorder caused by the maternal duplication of chromosome 21. Patients present with mental retardation, cardiovascular abnormalities, cervical spine instability, generalized ligamentous laxity, and recurrent joint dislocations.
    • Diagnosis is made with chromosomal testing to assess for trisomy 21. 
    • Treatment involves a multidisciplinary approach to improve and maintain function. Surgical spinal instrumentation and fusion are indicated in patients with atlantoaxial instability and occipitocervical with progressive neurological deficits. 
  • Epidemiology
    • Incidence
      • most common chromosomal abnormality in the United States
      • 1:700 live births
    • Risk factors
      • advanced maternal age. 1 in 250 if mother > 35 yo, 1 in 5000 if < 30 yo
  • Etiology
    • Genetics
      • maternal duplication of chromosome 21, yielding a trisomy 21
      • chromosome 21 codes for Type VI Collagen (COL6A1, COL6A2)
        • critical component of skeletal muscle extracellular matrix
        • dysfunction may contribute to generalized joint laxity
    • Associated conditions
      • orthopaedic manifestations
        • generalized ligamentous laxity and hypotonia
        • short stature
        • Occipitocervical Instability
        • delayed motor milestones (walk at 2-3 years of age)
        • hip subluxation and dislocation
        • patellofemoral instability and dislocation
        • scoliosis & spondylolisthesis
        • pes planus
        • metatarsus primus varus
        • SCFE
      • medical conditions and comorbidities
        • mental retardation
        • cardiac disease (50%)
        • endocrine disorders (hypothyroidism)
        • premature aging
        • duodenal atresia
        • hypothyroidism
        • Alzheimer's disease
  • Presentation
    • Symptoms
      • determining degree of symptoms can be difficult
    • Physical exam
      • HEENT
        • flattened facies
        • upward slanting eyes
        • epicanthal folds
      • upper extremity
        • single palmar crease (simian crease)
        • ligamentous laxity
      • spine
        • scoliosis
      • neuro
        • mental retardation of varying degrees
        • hearing loss
  • Spine Conditions
    • Atlantoaxial Instability
      • epidemiology
        • instability is present in 17.5%
      • presentation
        • may be subtle
        • manifests as a loss or change in gait or bowel/bladder symptoms
      • radiographs
        • may obtain flexion-extension cervical spine radiographs (indications vary, routine screening radiographs likely not needed)
        • flexion-extension films are needed to confirm stability prior to intubation
        • atlantodens interval (ADI) of <5mm is normal
        • In general, 5-10mm of motion can be considered normal in this population
      • treatment
        • nonoperative
          • routine follow up with neurologic evaluation and repeat imaging
            • indications
              • for ADI 5-10, no neurologic findings, and imaging with >14mm space available for the cord.
        • operative
          • C1-2 posterior spinal fusion
            • general indications
              • ADI >5mm and symptomatic/myelopathic or ADI >10mm
              • <14mm space available for the cord
            • complications
              • reported complication rate up to 50%
        • sports participation
          • asymptomatic patients with instability should avoid contact sports, diving, and gymnastic
    • Occipitocervical Instability
      • imaging
        • Powers ratio
          • used to diagnosis occipitocervical instability
      • treatment
        • observation with limitation of contact sports activity
          • indications
            • vast majority of patients
        • posterior occipitocervical fusion
          • indications
            • progressive neurologic deficits and myelopathy
    • Lumbar Spondylolithesis
      • present in 6% of patients with Down's Syndrome
    • Scoliosis
      • treatment
        • bracing for Curves 25-30 degrees
        • spinal Fusion for curves >50 degrees
      • complications
        • complication rate with surgical treatment likely greater than idiopathic scoliosis
  • Knee Conditions
    • Patellofemoral instability
      • radiographs
        • lower extremity to evaluate for genu valgum
        • sunrise or Merchant view to evaluate degree of subluxation or dislocation
      • treatment
        • nonoperative
          • observation only
            • indications
              • in skeletally mature patient with no pain
          • patellar stabilizing brace
            • indicated if symptomatic
        • operative
          • lateral release, medial reefing, semitendiniosus tenodesis, or tibial tubercle osteotomy
            • indications
              • symptomatic patients
              • osteotomy for skeletal mature patients
  • Hip Conditions
    • Hip instability
      • introduction
        • hip instability is very common secondary to ligamentous laxity and altered proximal femur/acetabular osteology (i.e. coxa valgum, retroverted acetabulum)
        • may initially present with subluxation or dislocation
        • occurs between 2-10 years of age
        • occurs in 5% of patients
      • treatment
        • nonoperative
          • abduction bracing
            • indications
              • younger child without bony changes or dislocation
        • operative
          • capsulorrhaphy and pelvic and femoral varus osteotomies
            • indications
              • symptomatic older children
            • surgery associated with high complication rate
    • Slipped capital femoral epiphysis
      • introduction
        • evaluate for concomitant hypothyroidism
      • radiographs
        • AP and Frog Pelvis
      • treatment
        • operative
          • pinning of affected and contralateral hip
  • Foot Conditions
    • Pes Planus and Planovalgus
      • introduction
        • seen in 50% of patients
      • treatment
        • orthotics
          • indications
            • if symptomatic
        • surgery correction
          • indications
            • if refractory symptoms
    • Metatarsus primus varus
    • Hallux valgus
      • seen in 25% of patients
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