Ichthyosis, Chanarin Dorfman Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Ichthyosis, Chanarin Dorfman Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Chanarin Dorfman Disease
- Disorder of Cornification 12 (Neutral Lipid Storage Type)
- DOC 12 (Neutral Lipid Storage Type)
- Dorfman Chanarin Syndrome
- Ichthyosiform Erythroderma with Leukocyte Vacuolation
- Ichthyotic Neutral Lipid Storage Disease
- Neutral Lipid Storage Disease
- Triglyceride Storage Disease Impaired Long-Chain Fatty Acid Oxidation
Chanarin Dorfman syndrome is a rare hereditary disorder of fat (lipid) metabolism. It is characterized by scaly skin (ichthyosis), degeneration of the muscles (myopathy), and abnormal white blood cells with small spaces (vacuoles) filled with fat (lipids).
Foundation for Ichthyosis & Related Skin Types
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 4/14/2008
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