Williams-Beuren syndrome (Q55149): Difference between revisions
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A síndrome de Williams é uma doença genética rara caracterizada por um transtorno do desenvolvimento que associa uma malformação cardíaca (mais frequentemente estenose aórtica supravalvar, EASV) em 75% dos casos, retardo psicomotor, um dismorfismo facial característico e um perfil cognitivo e comportamental específico. | |||
| description / en | description / en | ||
Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile. | |||
Revision as of 02:47, 14 August 2026
Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1644383468 |
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| English | Williams-Beuren syndrome |
Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile. |
