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Smith-Magenis Syndrome

More information in Books or onNLM PubMed
Definition: 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.     
See Also Chronobiology Disorders
Other names Syndrome, Smith-Magenis; Smith Magenis Syndrome
 
SubstanceCAS Registry & nameCategoriesSource
Potocki-Lupski syndrome  0   *Smith-Magenis Syndrome.
RAI1 protein, human  0   *Transcription Factors Smith-Magenis Syndrome. Gene 2001 May 30;270(1-2):69-76

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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