CAMFAK syndrome

CAMFAK syndrome

Infobox_Disease
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DiseasesDB = 33725
ICD10 =
ICD9 =
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OMIM = 212540
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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

* [http://www3.interscience.wiley.com/cgi-bin/abstract/110519870/ABSTRACT?CRETRY=1&SRETRY=0 Wiley InterScience Journal]
*
* [http://www.orpha.net/static/GB/camfak_syndrome.html Overview] at Orphanet


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