Updated: 6/16/2021

Prader-Willi Syndrome

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  • Summary
    • Prader-Willi Syndrome is a congenital condition caused by a partial chromosome 15 deletion that presents with obesity, failure to thrive, mental retardation, hip dysplasia, and scoliosis. 
    • Diagnosis is made with physical examination at birth and genetic testing to identify a missing portion of chromosome 15.
    • Treatment involves a multidisciplinary approach to address orthopedic manifestations, cognitive abnormalities, and metabolic abnormalities.
  • Epidemiology
    • Incidence
      • 1 in 25,000 births
  • Etiology
    • Genetics
      • partial chromosome 15 deletion
    • Associated conditions
      • orthopaedic
        • growth retardation
        • hip dysplasia
        • juvenile onset scoliosis
        • genu valgum
        • pes planus
        • leg length difference
      • medical
        • hypotonic
        • obese
        • intellectually impaired
        • insatiable appetite
        • hypoplastic genitalia
  • Presentation
    • Symptoms
      • failure to thrive in infancy
      • weak cry
      • aggressive behavior
      • abnormal facial features
        • almond-shaped eyes
        • small, down-turned mouth
    • Physical exam
      • small for gestational age
      • hypoplastic or undescended testicles
      • delayed onset of puberty
      • truncal obesity at 1-4 years of age
      • slow motor development
      • may show signs of right-sided heart failure
      • knee and hip instability
  • Imaging
    • Radiographs
      • recommended views
        • scoliosis films
        • consider AP pelvis to identify hip dysplasia
  • Evaluation
    • Diagnosis is based primarily on physical exam at infancy
    • Labs
      • glucose intolerance
      • high insulin level
      • failure to respond to LHrF
      • high CO2, low O2
    • Genetic testing
      • may identify missing portion of chromosome 15 to confirm diagnosis
  • Treatment
    • Nonoperative
      • bracing
        • indications: curves over 20°-25° in children less than 10 years of age
        • efficacy may be compromised by obesity
    • Operative
      • growth rods
        • indications
          • children under the age of 10 who cannot maintain a curve under 50°
      • posterior spinal fusion
        • indications- older children with curves greater than 50°
        • complications may be higher than in idiopathic scoliosis

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