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Smith-Magenis syndrome

Disease definition

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.


  • Synonym(s):
    • 17p11.2 microdeletion syndrome
  • Prevalence: 1-9 / 100 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 182290
  • UMLS: C0795864
  • MeSH: D058496
  • GARD: 8197
  • MedDRA: -

Detailed information

Article for general public


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