Angelman syndrome

Also known as happy puppet syndrome, puppetlike syndrome, AS, Happy Puppet Syndrome, Formerly, Angelman Syndrome Chromosome Region

genetic condition in humans

Key facts

Other names: Angelman's syndrome
Pronunciation: / ˈ æ ŋ ɡ ə l m ə n / , / ˈ æ n dʒ əl m ə n / , or / ˈ eɪ n dʒ əl m ə n /
Specialty: Medical genetics
Symptoms: Delayed development, happy demeanor, 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

via Wikipedia infobox

Article

Angelman syndrome (AS) is a rare 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 often have a happy personality. Angelman syndrome involves genes that have also been linked to 1–2% of autism spectrum disorder cases.

Epidemiology