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Smith-Magenis Syndrome

Main Features

  • Distinctive physical features
    • Brachycephaly, broad and flat facies, mid-facial hypoplasia, synophrys, downturned upper lip, prognathism, malformed and malpositioned helices
    • Infants
    • School Age
    • Adolescent
  • Developmental delay
  • Cognitive impairment
  • Behavioral abnormalities
  • Sleep disturbance
  • Childhood-onset abdominal obesity

Eye Findings

  • Iris anomalies (68%)
  • Microcornea (50%)
  • Myopia (42%)
  • Strabismus (32%)
    • Esotropia > Exotropia > Hipertrofia
  • Microphthalmos (rare)
  • Uveal and Retinal Coloboma (rare)

Other Findings

Etiology

  • Heterozygous deletion at chromosome 17p11.2 that includes RAI1 or a heterozygous intragenic RAI1 pathogenic variant.

References

Gene Reviews
Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996]] {{tag>syndrome