Angelman syndrome (Q46847): Difference between revisions
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Síndrome de Angelman é um transtorno neurogenético caracterizado por déficit intelectual grave e dismorfia facial distinta (microcefalia, macrostomia, hipoplasia maxilar, prognatia), alteração comportamental (surtos de gargalhadas com agitar de mãos, comportamento feliz, hiperatividade sem agressão, tempo de atenção curto, excitabilidade e problemas de sono com necessidade diminuída de dormir, sensibilidade aumentada ao calor, atração e fascinação por água) e características neurológicas (uma marcha semelhante a uma marionete, ataxia e crises epilépticas). | |||
| description / en | description / en | ||
Angelman syndrome is a neurogenetic disorder characterised by severe intellectual deficit and distinct facial dysmorphic (microcephaly, macrostomia, maxillary hypoplasia, prognathia), behavioural (outbursts of laughter with hand flapping, a happy demeanour, hyperactivity without aggression, short attention span, excitability and sleeping problems with decreased need to sleep, increased sensitivity to heat, attraction to and fascination with water), and neurological features (a puppet-like gait, ataxia and epileptic seizures). | |||
Revision as of 15:42, 13 August 2026
Angelman syndrome is a neurogenetic disorder characterised by severe intellectual deficit and distinct facial dysmorphic (microcephaly, macrostomia, maxillary hypoplasia, prognathia), behavioural (outbursts of laughter with hand flapping, a happy demeanour, hyperactivity without aggression, short attention span, excitability and sleeping problems with decreased need to sleep, increased sensitivity to heat, attraction to and fascination with water), and neurological features (a puppet-like gait, ataxia and epileptic seizures).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD90.0 |
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| English | Angelman syndrome |
Angelman syndrome is a neurogenetic disorder characterised by severe intellectual deficit and distinct facial dysmorphic (microcephaly, macrostomia, maxillary hypoplasia, prognathia), behavioural (outbursts of laughter with hand flapping, a happy demeanour, hyperactivity without aggression, short attention span, excitability and sleeping problems with decreased need to sleep, increased sensitivity to heat, attraction to and fascination with water), and neurological features (a puppet-like gait, ataxia and epileptic seizures). |
