Trisomy 18

a.k.a Edwards syndrome

• 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

• Present in 8-10%
• Microphthalmia
• Strabismus
• Corneal opacities, Microcornia
• 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
• Retinal vascular tortuosity

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

• chromosomal abnormality

• Medline Plus Trisomy 18
• Congenital Anomalies associated with Trisomy 18 or Trisomy 13: A registry-based study in 16 European countries, 2000-2011. Springett A. et al. Am J Med Genet A. 2015 (12):3062-3069.
• A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18. Atwal PS. J Pediatr Genet 2015;4:207-208.
• Velzeboer CM, van der Harten JJ, Koole FD. Ocular pathology in trisomy 18. A histopathological report of three cases. Ophthalmic Paediatr Genet 1989;10(4):263–269