DISEASE SCANNER
Global Incurable Diseases Tracker
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Genetic Disorder
Smith-Magenis Syndrome
HIGH SEVERITY
A microdeletion syndrome caused by 17p11.2 deletion including RAI1 gene. Characterized by intellectual disability, behavioral problems, sleep disturbances (inverted circadian rhythm), and self-injurious behavior.
Global Affected
15.0K
Countries
15
Symptoms
Intellectual disability
Behavioral problems
Sleep disturbances
Self-injurious behavior
Speech delay
Distinctive facial features
Hearing loss
Scoliosis
Treatment Options
Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care
Risk Factors
1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Good with behavioral and medical management. Self-injurious behaviors manageable. Sleep disturbance improves with melatonin. Normal life expectancy.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Melatonin for sleep disturbance. Behavioral interventions. Speech and occupational therapy. Avoidance of medications that worsen behavior. Multidisciplinary management. No cure available.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.