Smith–Magenis syndrome
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Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17.[1] 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.[2]
Quick Facts Other names, Pronunciation ...
Smith–Magenis syndrome | |
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Other names | 17p11.2 microdeletion syndrome, sms, smagentism |
Pronunciation |
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Specialty | Genetic |
Symptoms | Dysmorphic facial features, intellectual disability, self harm, sleep disturbances, scoliosis, reduced sensitivity to pain and temperature |
Complications | School |
Usual onset | 2-10 |
Duration | Lifetime |
Causes | Micro deletion 177.p2 |
Risk factors | Self harm (biting nails) |
Diagnostic method | Genetic testing |
Differential diagnosis | Autism (often mistaken at first but fixed later) |
Prevention | No prevention found |
Medication | Melatonin |
Deaths | (Unknown) |
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