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Ichthyosis, Chanarin Dorfman Syndrome
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Copyright 1988, 1989, 1992, 1993, 1997, 2005
Synonyms of Ichthyosis, Chanarin Dorfman Syndrome
- 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
Disorder Subdivisions
General Discussion
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).
Organizations related to Ichthyosis, Chanarin Dorfman Syndrome
- Foundation for Ichthyosis & Related Skin Types
1364 Welsh Road G2
North Wales PA 19454
Phone #: 215-619-0670
800 #: 800-545-3286
e-mail: info@scalyskin.org
Home page: http://www.scalyskin.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- NIH/National Institute of Allergy and Infectious Diseases
6610 Rockledge Drive
MSC 6612
Bethesda MD 20892-6612
Phone #: 301-496-5717
800 #: --
e-mail: N/A
Home page: http://www.niaid.nih.gov/
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