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DeCS
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Descriptor English:
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Smith-Magenis Syndrome
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Descriptor Spanish:
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Síndrome de Smith-Magenis
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Descriptor Portuguese:
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Síndrome de Smith-Magenis
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Synonyms English:
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17p11.2 Monosomy
Chromosome 17p11.2 Deletion Syndrome
Smith Magenis Syndrome
Syndrome, Smith-Magenis
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Tree Number:
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C10.281.900
C16.131.077.879
C16.131.260.887
C16.320.180.887
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Definition English:
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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 Related English:
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Chronobiology Disorders
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History Note English:
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2011
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Allowable Qualifiers English:
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Record Number:
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53964
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Unique Identifier:
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D058496
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Occurrence in VHL:
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Similar:
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DeCS
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