U.S. flag

An official website of the United States government


Send to:

Choose Destination

Links from MedGen

Chanarin-Dorfman Syndrome [Supplementary Concept]

A rare hereditary autosomal recessive lipid storage syndrome that is more common in persons of Middle Eastern descent. It is characterized by the appearance of lipid droplets in GRANULOCYTES and a variety of symptoms in multiple organs, including congenital ICTHYOSIS; SENSORUNEURAL HEARING LOSS, ocular abnormalities, FATTY LIVER and HEPATOMEGALY; ATAXIA; MYOPATHY, and INTELLECTUAL DISABILITY. Mutations in the ABHD5 gene have been identied. OMIM: 275630

Date introduced: August 25, 2010

MeSH Unique ID: C536560

Heading Mapped to:

Entry Terms:

  • Neutral lipid storage myopathy
  • Ichthyotic neutral lipid storage disease
  • Chanarin-Dorfman disease
  • Triglyceride Storage Disease with Ichthyosis
  • Dorfman Chanarin syndrome
  • Dorfman-Chanarin Syndrome
  • Neutral Lipid Storage Disease With Ichthyosis
  • Triglyceride storage disease with impaired long-chain fatty acid oxidation
  • Ichthyosiform erythroderma with leukocyte vacuolation

Supplemental Content

Loading ...