1p36 Deletion Syndrome

Main Features

  • Developmental Delay
  • Seizures
  • Brain Malformation

Eye Findings

  • Poor vision responses (visually inattentive) 44%-64%
  • Strabismus 35%-67%
    • Horizontal
    • Duane Syndrome- 2 cases
  • Refractive Errors
    • Hyperopia 41%-67%
    • Myopia 17%-40%
    • Astigmatism 23%
  • Nystagmus 13%-23%
  • Cataract
    • Unilateral cataract 6%
    • Bilateral lamellar cataract- 2 cases
  • Retinal “albinism” 6%
  • Optic nerve coloboma 3%

Other Findings


  • from Reference (2):1p36 Deletion Syndrome Support
  • Microbrachycephaly
  • Distinctive facial features
    • Deep-set eyes, straight eye brows, mid face hypoplasia, broad flat nose, long philtrum, pointed chin, low-set and
    • backwards rotated ears

    • from Reference (1)
  • Brachylactyly
  • camptodactyly
  • short feet
  • Hearing problems

Etiology

  • Deletion of 1p36
  • 1:5,000 newborns
  • Most common terminal deletion syndrome

Resources

  1. Battaglia A et al. Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation. Pediatrics 2008;121(2):404-410
  2. 1p36 Deletion Support
  3. Danese C et al. Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletionsyndrome. Journal of AAPOS 2021;25(6):368-370