Woodhouse-Sakati syndrome (Q87792): Difference between revisions
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Síndrome de Woodhouse-Sakati é um transtorno genético multissistêmico caracterizado por uma combinação de sintomas endócrinos, dermatológicos, neurológicos e cognitivos. Manifestações principais incluem hipogonadismo, alopecia, diabetes mellitus, déficit intelectual e transtornos extrapiramidais de movimento, tais como movimentos coreoatetóides e distonia._x000D_ _x000D_ Quase todos os indivíduos com síndrome de Woodhouse-Sakati apresentam hipogonadismo, tipicamente se tornando evidente na puberdade, e afinamento progressivo dos cabelos durante a infância, que frequentemente evolui para perda total de cabelo (alopecia totalis) na idade adulta._x000D_ _x000D_ Mais da metade dos indivíduos afetados desenvolve sintomas neurológicos, incluindo transtornos progressivos do movimento extrapiramidal (como espasmos distônicos e posturas atípicas, frequentemente acompanhados de disartria e disfagia), perda auditiva neurossensorial bilateral moderada com início após a aquisição da linguagem (pós-lingual) e deficiência intelectual leve. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Woodhouse-Sakati syndrome (WSS) is a multisystem genetic disorder characterized by a combination of endocrine, dermatological, neurological, and cognitive symptoms. Core features include hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal movement disorders such as choreoathetoid movements and dystonia. Nearly all individuals with WSS present with hypogonadism, typically becoming evident at the time of puberty, and progressive hair thinning during childhood, which often advances to complete hair loss (alopecia totalis) in adulthood. More than half of affected individuals develop neurological symptoms, including progressive extrapyramidal movement disorders (such as dystonic spasms and posturing, often accompanied by dysarthria and dysphagia), moderate bilateral sensorineural hearing loss beginning after language acquisition (postlingual), and mild intellectual disability. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1893572805 / rank | |||||||||||||||
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CID11:ID_1893572805 | |||||||||||||||
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dki-india-ID_1893572805 | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 13:44, 15 August 2026
Woodhouse-Sakati syndrome (WSS) is a multisystem genetic disorder characterized by a combination of endocrine, dermatological, neurological, and cognitive symptoms. Core features include hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal movement disorders such as choreoathetoid movements and dystonia. Nearly all individuals with WSS present with hypogonadism, typically becoming evident at the time of puberty, and progressive hair thinning during childhood, which often advances to complete hair loss (alopecia totalis) in adulthood. More than half of affected individuals develop neurological symptoms, including progressive extrapyramidal movement disorders (such as dystonic spasms and posturing, often accompanied by dysarthria and dysphagia), moderate bilateral sensorineural hearing loss beginning after language acquisition (postlingual), and mild intellectual disability.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1893572805 |
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| English | Woodhouse-Sakati syndrome |
Woodhouse-Sakati syndrome (WSS) is a multisystem genetic disorder characterized by a combination of endocrine, dermatological, neurological, and cognitive symptoms. Core features include hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal movement disorders such as choreoathetoid movements and dystonia. Nearly all individuals with WSS present with hypogonadism, typically becoming evident at the time of puberty, and progressive hair thinning during childhood, which often advances to complete hair loss (alopecia totalis) in adulthood. More than half of affected individuals develop neurological symptoms, including progressive extrapyramidal movement disorders (such as dystonic spasms and posturing, often accompanied by dysarthria and dysphagia), moderate bilateral sensorineural hearing loss beginning after language acquisition (postlingual), and mild intellectual disability. |
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CID11:ID_1893572805
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dki-india-ID_1893572805
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Concluído
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13 August 2026
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