Smith-Magenis Syndrome

• Distinctive physical features
  • Brachycephaly, broad nasal bridge, prominent forehead, synophrys, downturned upper lip, prognathism, malformed and malpositioned helices
  • Infants
  • School Age
  • Adolescent

From Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996

• Developmental delay
• Cognitive impairment
• Behavioral abnormalities
• Sleep disturbance
• Childhood-onset abdominal obesity

• Iris anomalies (68%)
  • No iris collarette
  • Nasal correctopia
  • Stromal dysplasia
  • Mamillations
  • Wölfflin-Krückmann spots
• Microcornea (50%)
• Myopia (42%)
• Strabismus (32%)
  • Esotropia > Exotropia > Hypertropia
• Microphthalmos (rare)
• Uveal and Retinal Coloboma (rare)

• Clinical Features Table

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

1. Gene Reviews
2. Ophthalmic Manifestations of Smith-Magenis Syndrome. Ophthalmology 1996