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Sotos Syndrome

Main Features

  • Distinctive Facial Features
    • Broad, prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair,downslanting palpebral fissures, malar flushing, long and narrow face, tall chin
  • Learning disability
  • Overgrowth > 2 SD above the mean (98th percentile)
    • Tall stature
    • Macrocephaly

Eye Findings

  • Strabismus
  • Nystagmus
  • Cataract
  • Refractive error
    • astigmatism
    • myopia
    • hyperopia
  • Optic atrophy
  • Retinal atrophy
  • Megalophthalmos

Other Findings

  • Behavioral problems especially autism
  • Advance bone age
  • Cardiac anomalies
    • PDA, septal defects or more complex anomalies
  • Cerebral ventriculomegaly
  • Joint hyperlaxity with or without pes planus
  • Renal anomalies- most commonly VUR
  • Scoliosis
  • Seizures

Etiology

  • Mutations in the NDS1 gene
  • 5q35 microdeletion encompasing NDS1

Resources