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). | |||
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 |
|---|---|---|---|
| default for all languages | ID_1762530521 |
||
| 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). |
