Chanarin-Dorfman Syndrome: A comprehensive review

Liver Int. 2021 May;41(5):905-914. doi: 10.1111/liv.14794. Epub 2021 Mar 18.


The Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease. This syndrome is associated with a decrease in the lipolysis activity in multiple tissue cells because of recessive mutations in the abhydrolase domain containing 5 (ABHD5) gene, which leads to the accumulation of lipid droplets in multiple types of cells. Major clinical symptoms in patients with CDS include ichthyosis and intracytoplasmic lipid droplets. The variability of clinical symptoms in patients with CDS depends on a large number of mutations involved. In this syndrome, liver involvement is an important cause of mortality and morbidity. This review aims to summarize the demographic characteristic, clinical symptoms, liver involvement and mutations in CDS patients in the literature to date.

Keywords: CGI-58; Chanarin-Dorfman syndrome; ichthyosis; non-alcoholic steatohepatitis.

Publication types

  • Review

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics
  • Humans
  • Ichthyosiform Erythroderma, Congenital* / diagnosis
  • Ichthyosiform Erythroderma, Congenital* / genetics
  • Lipid Metabolism, Inborn Errors* / diagnosis
  • Lipid Metabolism, Inborn Errors* / genetics
  • Muscular Diseases* / genetics


  • 1-Acylglycerol-3-Phosphate O-Acyltransferase

Supplementary concepts

  • Chanarin-Dorfman Syndrome