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Updated: May 22 2021

Apert Syndrome

Images
https://upload.orthobullets.com/topic/6078/images/xray - rosebud hand - colorado_moved.jpg
https://upload.orthobullets.com/topic/6078/images/Clinical photo - colorado_moved.jpg
https://upload.orthobullets.com/topic/6078/images/Clinical photo_moved.jpg
https://upload.orthobullets.com/topic/6078/images/apert facies..jpg
https://upload.orthobullets.com/topic/6078/images/apert hands..jpg
https://upload.orthobullets.com/topic/6078/images/Clinical photo - rosebud hand - colorado_moved.jpg
  • Introduction
    • Syndrome characterized by
      • bilateral complex syndactyly of hands and feet
        • index, middle, and ring fingers most affected
      • symphalangism
      • premature fusion of cranial sutures (craniosynostosis) results in flattened skull and broad forehead (acrocephaly)
      • hypertelorism (increased distance between paired body parts, as in wide set eyes)
      • normal to moderately disabled cognitive function
      • glenoid hypoplasia
      • radioulnar synostosis
  • Epidemiology
    • Incidence
      • rare
        • 1/80,000 live births
  • Etiology
    • Genetics
      • autosomal dominant, but most new cases are sporadic
      • mutation of FGFr2 gene
  • Presentation
    • Physical exam
      • dysmorphic face
        • craniosynostosis results in flattened skull and facial features
      • rosebud hands (complex syndactyly where the index, middle, and ring finger share a common nail)
  • Imaging
    • Radiographs
      • will show complex syndactyly
  • Treatment
    • Operative
      • surgical release of border digits
        • indications
          • perform ~ 1 year of age
      • digit reconstruction
        • indications
          • perform ~ 1.5 years of age
        • to convert central three digits into two digits
  • Prognosis
    • Spectrum of normal to moderately disabled cognitive function
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