- CAMFAK syndrome
Name = PAGENAME
DiseasesDB = 33725
OMIM = 212540
CAMFAK syndrome (or CAMAK syndrome) is an
acronymused to describe a rare inherited neurologic disease, characterized by peripheral and central demyelinationof nerves, similar to that seen in Cockayne syndrome.
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.
Inheritance is thought to be
* [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
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