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[Smith-Magenis syndrome]

M O Livet1, A Moncla, B Delobel

  • 1Service de neurologie pédiatrique, hôpital d'enfant de la Timone, Marseille, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|April 16, 1998
PubMed
Summary
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Smith-Magenis syndrome, a genetic disorder caused by a 17p11.2 deletion, often presents with behavioral issues and sleep disturbances. Early diagnosis is crucial, as characteristic symptoms can indicate the syndrome despite mild facial features.

Area of Science:

  • Genetics
  • Medical Genetics
  • Developmental Biology

Context:

  • Smith-Magenis syndrome (SMS) is a complex genetic disorder.
  • Characterized by a deletion on chromosome 17p11.2.
  • Often underdiagnosed due to subtle facial abnormalities and prominent behavioral symptoms.

Purpose:

  • To highlight the diagnostic challenges of Smith-Magenis syndrome.
  • To emphasize the importance of recognizing behavioral and sleep patterns for diagnosis.
  • To underscore the need for evaluating associated medical conditions.

Summary:

  • Smith-Magenis syndrome results from a 17p11.2 deletion, leading to intellectual disability, distinctive facial features, and brachydactyly.
  • A significant majority (70%) experience aberrant behaviors, including hyperactivity and self-injury, and major sleep disturbances.

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  • These behavioral characteristics are key diagnostic indicators, prompting investigation for the 17p11.2 microdeletion, even when facial dysmorphism is mild.
  • Associated otorhinolaryngologic, ophthalmologic, cardiac, and renal abnormalities require thorough evaluation.
  • SMS is a contiguous gene syndrome, with genes in the critical region identified but their precise role in pathogenesis still under investigation.

    • Impact:

    • Facilitates earlier and more accurate diagnosis of Smith-Magenis syndrome.
    • Guides clinicians to consider SMS in patients with unexplained behavioral and sleep issues.
    • Promotes comprehensive management by highlighting associated medical conditions.
    • Contributes to understanding the genetic basis and clinical spectrum of contiguous gene syndromes.