Chanarin-Dorfman syndrome

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Disease 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.[3344]


Synonyms

  • Triglyceride storage disease with impaired long-chain fatty acid oxidation
  • NLSDI
  • Neutral lipid storage disease with ichthyotic
  • Ichthyosiform erythroderma with leukocyte vacuolation
  • Dorfman Chanarin syndrome
  • DCS
  • Chanarin-Dorfman disease
  • CDS
  • Disorder of cornification 12 (neutral lipid storage type)

For more information, visit GARD.

National Organization for Rare Disorders