Ichthyosis, Chanarin Dorfman Syndrome

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • 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

  • None

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).

Resources

Foundation for Ichthyosis & Related Skin Types
1364 Welsh Road G2
North Wales, PA 19454
Tel: (215)619-0670
Fax: (215)619-0780
Tel: (800)545-3286
Email: info@scalyskin.org
Internet: http://www.scalyskin.org

NIH/National Institute of Allergy and Infectious Diseases
6610 Rockledge Drive
MSC 6612
Bethesda, MD 20892-6612
Tel: (301)496-5717
Fax: (301)402-3573
TDD: (800)877-8339
Internet: http://www.niaid.nih.gov/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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