4 Interesting Facts of Smith Magenis syndrome
- 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
- Dysmorphic facies, mild mental disability, engaging personalities, and short stature are characteristics of both Williams and Smith-Magenis syndromes
- Distinguishing features include behavioral problems and sleep disturbances
- Differentiated from Williams syndrome by specific chromosomal deletion found at 17p11.2 by fluorescence in situ hybridization