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Genetic and Rare Diseases Information Center (GARD)

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Chanarin-Dorfman syndrome


Other Names for this Disease
  • CDS
  • Chanarin-Dorfman disease
  • DCS
  • Disorder of cornification 12 (neutral lipid storage type)
  • Dorfman Chanarin syndrome
More Names
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Overview


Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. This condition is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 4/22/2011

References

  1. Chanarin-Dorfman syndrome. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition/chanarin-dorfman-syndrome. Accessed 4/22/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Chanarin-Dorfman syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chanarin-Dorfman syndrome. Click on the link to view a sample search on this topic.