"Smith-Magenis Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D058496
|
| MeSH Number(s) |
C10.281.900 C16.131.077.879 C16.131.260.887 C16.320.180.887
|
| Concept/Terms |
Smith-Magenis Syndrome- Smith-Magenis Syndrome
- Smith Magenis Syndrome
- Syndrome, Smith-Magenis
- Chromosome 17p11.2 Deletion Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Smith-Magenis Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Smith-Magenis Syndrome".
This graph shows the total number of publications written about "Smith-Magenis Syndrome" by people in this website by year, and whether "Smith-Magenis Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 1 | 2 | 3 |
| 2011 | 5 | 5 | 10 |
| 2012 | 7 | 1 | 8 |
| 2013 | 3 | 0 | 3 |
| 2014 | 1 | 4 | 5 |
| 2015 | 2 | 1 | 3 |
| 2016 | 2 | 0 | 2 |
| 2017 | 1 | 0 | 1 |
| 2018 | 4 | 1 | 5 |
| 2019 | 2 | 1 | 3 |
| 2020 | 1 | 2 | 3 |
| 2021 | 2 | 0 | 2 |
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Smith-Magenis Syndrome" by people in Profiles.
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Relationships between food-related behaviors, obesity, and medication use in individuals with Smith-Magenis syndrome. Res Dev Disabil. 2022 Aug; 127:104257.
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Tasimelteon safely and effectively improves sleep in Smith-Magenis syndrome: a double-blind randomized trial followed by an open-label extension. Genet Med. 2021 12; 23(12):2426-2432.
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Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD. J Autism Dev Disord. 2021 Jun; 51(6):1852-1865.
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Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS. Am J Med Genet A. 2020 09; 182(9):2077-2084.
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Management of Sleep Disturbances Associated with Smith-Magenis Syndrome. CNS Drugs. 2020 07; 34(7):723-730.
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Treatment algorithm for Japanese patients with chronic lymphocytic leukemia in the era of novel targeted therapies. J Clin Exp Hematop. 2020 Dec 15; 60(4):130-137.
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Behavior and sleep disturbance in Smith-Magenis syndrome. Curr Opin Psychiatry. 2019 03; 32(2):73-78.
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Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 03 07; 176(6):1310-1324.e10.
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
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Selecting Frontline Therapy for CLL in 2018. Hematology Am Soc Hematol Educ Program. 2018 11 30; 2018(1):242-247.