"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".
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Below are the most recent publications written about "Smith-Magenis Syndrome" by people in Profiles.