This MedLibrary.org supplementary page on CAMFAK syndrome is provided directly from the open source Wikipedia as a service to our readers. Please see the note below on authorship of this content, as well as the Wikipedia usage guidelines. To search for other content from our encyclopedia supplement, please use the form below:
Related Sponsors
 |
This article does not cite any references or sources. Please help improve this article by adding citations to reliable sources. Unverifiable material may be challenged and removed. (May 2008) |
| CAMFAK syndrome Classification and external resources |
|
| OMIM | 212540 |
|---|---|
| DiseasesDB | 33725 |
CAMFAK syndrome (or CAMAK syndrome) is an acronym used to describe a rare inherited neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome.
Presentation
The name "CAMFAK" comes from the first letters of the characteristic findings of the disease: cataracts, microcephaly, failure to thrive, and kyphoscoliosis. The disease may occur with or without failure to thrive and arthrogryposis. Low birth weight and a bird-like face may be the first signs. Severe intellectual deficit and death within the first decade are typical.
Genetics
Inheritance is thought to be autosomal recessive.
External links
- Wiley InterScience Journal
- CAMFAK syndrome at NIH's Office of Rare Diseases
- Overview at Orphanet
|
|||||||||||||||||||||||||||||||||||||||||
 |
This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
Wikipedia content modification information:
- This page was last modified on 22 December 2008, at 00:27.
Wikipedia Authorship and Review
Wikipedia content provided here is not reviewed directly by MedLibrary.org. Wikipedia content is authored by an open community of volunteers and is not produced by or in any way affiliated with MedLibrary.org.
Wikipedia Usage Guidelines
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article on "CAMFAK syndrome".
The URL for this specific entry is:
All Wikipedia text is available under the terms of the GNU Free Documentation License. (See Copyrights for details). Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc.