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Trisomy 18

a.k.a Edwards syndrome

Main Features

  • Constellation of congenital anomalies affecting multiple organ systems (face, cardiac, renal, GI, CNS)
    • Characteristic physical features
      • Small head, micrognatia, low-set malformed ears, overlapping fingers rocker bottom feet
      • Short sternum, underdeveloped thumbs, small fingernails
    • Neurologic impairment with severe psychomotor and cognitive disability
    • Feeding difficulty and failure to thrive
  • High infant mortality
    • most infants die in the first year of life
  • Cleveland Clinic Image Summary

Eye Findings

  • Present in 8-10%
  • Microphthalmia
  • Strabismus
  • Corneal opacities
  • Glaucoma
  • Iris or choroid coloboma
  • Cataract
  • Anterior segment dysgenesis
  • Eyelids
    • Ptosis
    • epicanthus
    • hypertelorism
  • Nystagmus reported but more rare, often in the setting of brain malformation

Other Findings

  • Cardiac
    • VSD, ASD, PDA
    • Complex anomalies
  • Renal
  • GI
    • omphalocele, TE fistula
  • CNS
    • Cerebellar hypoplasia, choroid plexus cysts

Etiology

  • chromosomal abnormality

Resources