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BoggleCAMFAK syndrome
From Wikipedia, the free encyclopedia
| This article does not cite any references or sources. Please help improve this article by adding citations to reliable sources. Unsourced 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.[1]
Contents |
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
CAMFAK syndrome has an autosomal recessive pattern of inheritance.
Inheritance is thought to be autosomal recessive.
References
External links
- Wiley InterScience Journal
- CAMFAK syndrome at NIH's Office of Rare Diseases
- Overview at Orphanet
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