Smith-Magenis Syndrome

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.

Year introduced: 2011

PubMed search builder options

Subheadings:

Restrict to MeSH Major Topic.

Do not include MeSH terms found below this term in the MeSH hierarchy.

Tree Number(s): C10.281.900, C16.131.077.879, C16.131.260.887, C16.320.180.887

MeSH Unique ID: D058496

Entry Terms:

• Smith Magenis Syndrome
• Syndrome, Smith-Magenis
• Chromosome 17p11.2 Deletion Syndrome
• 17p11.2 Monosomy

See Also:

• Chronobiology Disorders

All MeSH Categories
Diseases Category
Nervous System Diseases
Chronobiology Disorders
Smith-Magenis Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Smith-Magenis Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Chromosome Disorders
Smith-Magenis Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Chromosome Disorders
Smith-Magenis Syndrome