Angelman syndrome
| Angelman syndrome | |
|---|---|
| Other names | Angelman's syndrome |
| A five-year-old girl with Angelman syndrome. Features shown include telecanthus, bilateral epicanthic folds, small head, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs. | |
| Pronunciation |
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| Specialty | Medical genetics |
| Symptoms | Delayed development, unusually happy, intellectual disability, limited to no functional speech, balance and movement problems, small head, seizures |
| Usual onset | Noticeable by 6–12 months |
| Causes | Genetic (new mutation) |
| Diagnostic method | Based on symptoms, genetic testing |
| Differential diagnosis | Cerebral palsy, autism, Rett syndrome, Prader–Willi syndrome |
| Treatment | Supportive care |
| Prognosis | Nearly normal life expectancy |
| Frequency | 1 in 12,000 to 20,000 people |
Angelman syndrome (AS) is a genetic disorder that affects approximately 1 in 15,000 individuals. AS impairs the function of the nervous system, producing symptoms, such as severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, hyperactivity, and sleep problems. Physical symptoms include a small head and a specific facial appearance. Additionally, those affected usually have a happy personality and have a particular interest in water. Angelman syndrome involves genes that have also been linked to 1–2% of autism spectrum disorder cases.