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Smith Magenis Syndrome

Abstract

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Synonyms of Smith Magenis Syndrome

  • chromosome 17, interstitial deletion 17p
  • SMCR
  • Smith-Magenis chromosome region
  • SMS

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Smith-Magenis syndrome is characterized by particular facial features, developmental delays, mental retardation and behavioral abnormalities.

The facial features include a broad square-shaped face, an abnormally short, broad head (brachycephaly); an abnormally broad, flat midface; a broad nasal bridge; an unusually prominent jaw (prognathism); eyebrows growing across the base of the nose (synophrys); a short full tipped nose and fleshy upper lip with a tented appearance.

Developmental delays and intelligence are variable but most affected individuals have mild to moderate mental retardation. Behavioral abnormalities include sleep disturbances, repetitive movements (stereotypies) and a tendency to inflict harm on oneself.

Smith-Magenis syndrome occurs when there is a missing piece of chromosome on the short arm of chromosome 17 (17p11.2).

Organizations related to Smith Magenis Syndrome

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