Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Ichthyosis, Chanarin Dorfman Syndrome


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
    • NIH/National Institute of Allergy and Infectious Diseases
      6610 Rockledge Drive
      Bethesda MD 20892-6612
      Phone #: 301-496-5717
      800 #: --
      e-mail: N/A
      Home page: http://www.niaid.nih.gov/



    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