CAMFAK syndrome (Q94125)
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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). |
Statements
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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