Smith Magenis syndrome

4 Interesting Facts of Smith Magenis syndrome 

  1. Congenital syndrome characterized by:
    • Developmental delay, cognitive impairment, and distinctive neurobehavioral abnormalities
    • Notable dysmorphic facial features, including midface retrusion; short, upturned nose; deep-set, close-spaced eyes with upslanting palpebral fissures; brachycephaly; broad forehead; and down-turned, tent-shaped upper vermilion lip border
  2. Dysmorphic facies, mild mental disability, engaging personalities, and short stature are characteristics of both Williams and Smith-Magenis syndromes
  3. Distinguishing features include behavioral problems and sleep disturbances
  4. Differentiated from Williams syndrome by specific chromosomal deletion found at 17p11.2 by fluorescence in situ hybridization

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