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.

Also Known As:

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

Nervous System Diseases: 14178
- Chronobiology Disorders: 192
  - Smith-Magenis Syndrome: 107
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Smith-Magenis Syndrome: 107
  - Chromosome Disorders: 136
    - Smith-Magenis Syndrome: 107
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Smith-Magenis Syndrome: 107

F Salefranque Selected Research

F Salefranque Research Topics

Disease

Drug/Important Bio-Agent (IBA)