CAMFAK syndrome
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CAMFAK syndrome | |
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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
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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