Diseases

Smith-Magenis Syndrome

Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.

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See Also

MeSH Record

Synonyms

4 entry terms
  • Chromosome 17p11.2 Deletion Syndrome
  • Smith Magenis Syndrome
  • Syndrome, Smith-Magenis
  • 17p11.2 Monosomy

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2011

MeSH Hierarchy

Tree Numbers

  1. C10w.281.900w
  2. C16w.131w.077w.879w
  3. C16w.131w.260w.887w
  4. C16w.320w.180w.887w

AMA Style

References

  1. National Library of Medicine. Smith-Magenis Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D058496. http://id.nlm.nih.gov/mesh/2026/D058496
  2. Smith-Magenis Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Smith%E2%80%93Magenis_syndrome
  3. Smith-Magenis Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q2295338