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Smith-Magenis Syndrome MeSH Descriptor Data 2022


MeSH Heading
Smith-Magenis Syndrome
Tree Number(s)
C10.281.900
C16.131.077.879
C16.131.260.887
C16.320.180.887
Unique ID
D058496
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D058496
Scope Note
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.
Entry Term(s)
17p11.2 Monosomy
Chromosome 17p11.2 Deletion Syndrome
See Also
Chronobiology Disorders
Public MeSH Note
2011
History Note
2011
Date Established
2011/01/01
Date of Entry
2010/06/25
Revision Date
2013/07/08
Smith-Magenis Syndrome Preferred
17p11.2 Monosomy Related
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