CAMFAK syndrome (Q94125): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||||||||||||||
| Property / Collection date | |||||||||||||||
15 August 2026
| |||||||||||||||
| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
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 |
|---|---|---|---|
| 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
0 references
dki-india-ID_1762530521
0 references
Concluído
0 references
15 August 2026
0 references
