CAMFAK syndrome (Q94125): Difference between revisions
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Síndrome de CAMFAK ou CAMAK é o acrônimo usado para descrever uma síndrome caracterizada por Catarata, Microcefalia e cifoescoliose, com ou sem Falha no crescimento e Artrogripose. Alguns autores sugeriram que a síndrome CAMFAK é uma forma de síndrome de Cockayne de início precoce com desmielinização central e periférica, ou uma forma de síndrome de Pena-Shokeir tipo II (síndrome COFS). | |||||||||||||||
| description / en | description / en | ||||||||||||||
CAMFAK or CAMAK syndrome is the acronym used to describe a syndrome characterised by Cataract, Microcephaly, and Kyphoscoliosis, with or without Failure to thrive and Arthrogryposis. Some authors have suggested that CAMFAK syndrome is a form of early-onset Cockayne syndrome with peripheral and central demyelination, or a form of Pena-Shokeir syndrome type II (COFS syndrome). | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1762530521 / rank | |||||||||||||||
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CID11:ID_1762530521 | |||||||||||||||
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dki-india-ID_1762530521 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest revision as of 09:14, 16 August 2026
CAMFAK or CAMAK syndrome is the acronym used to describe a syndrome characterised by Cataract, Microcephaly, and Kyphoscoliosis, with or without Failure to thrive and Arthrogryposis. Some authors have suggested that CAMFAK syndrome is a form of early-onset Cockayne syndrome with peripheral and central demyelination, or a form of Pena-Shokeir syndrome type II (COFS syndrome).
| Language | Label | Description | Also known as |
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| default for all languages | ID_1762530521 |
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| English | CAMFAK syndrome |
CAMFAK or CAMAK syndrome is the acronym used to describe a syndrome characterised by Cataract, Microcephaly, and Kyphoscoliosis, with or without Failure to thrive and Arthrogryposis. Some authors have suggested that CAMFAK syndrome is a form of early-onset Cockayne syndrome with peripheral and central demyelination, or a form of Pena-Shokeir syndrome type II (COFS syndrome). |
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CID11:ID_1762530521
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dki-india-ID_1762530521
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Concluído
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15 August 2026
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