متلازمة أنجيلمان

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

مرض يصيب الإنسان

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