Smith–Magenis syndrome
| Smith–Magenis syndrome | |
|---|---|
| Other names | 17p11.2 microdeletion syndrome |
| This photo shows a patient with Smith-Magenis syndrome, who has typical facial features of that syndrome, such as a broad skull and face shape, hypoplasia of the midface, and dense eyebrows. | |
| Pronunciation |
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| Specialty | Genetic |
| Symptoms | Dysmorphic facial features, intellectual disability, self harm, sleep disturbances, scoliosis, reduced sensitivity to pain and temperature |
| Duration | Lifelong |
| Causes | Microdeletion in the 17p11.2 region of chromosome 17 |
| Risk factors | Genetic |
| Diagnostic method | Genetic testing |
| Differential diagnosis | Autism (often mistaken at first but fixed later) |
| Prevention | No prevention found |
| Medication | Melatonin |
| Deaths | (Unknown) |
Smith–Magenis syndrome (SMS), also known as 17p-microdeletion syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith–Magenis syndrome affects an estimated between 1 in 15,000 to 1 in 25,000 individuals.