Chanarin-Dorfman syndrome

Chanarin-Dorfman syndrome is a condition in which fats (lipids) build up in the body. Affected individuals have trouble breaking down certain fats called triglycerides; these fats then accumulate in organs and tissues, including the skin, liver, muscles, intestine, and bone marrow.

People with Chanarin-Dorfman syndrome have dry, scaly skin (ichthyosis), which is usually present at birth. They may also have lower eyelids that turn out so that the inner surface is exposed (ectropion). Additional features of Chanarin-Dorfman syndrome may include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), hearing loss, short stature, progressive muscle weakness (myopathy), and intellectual disabilities. Some people with Chanarin-Dorfman syndrome develop liver failure.

The signs and symptoms of Chanarin-Dorfman syndrome can vary greatly among individuals, which can delay the diagnosis of the condition.

Other names

CDS; Chanarin-Dorfman disease; DCS; Dorfman-Chanarin disease; Dorfman-Chanarin syndrome; Ichthyosiform Erythroderma with Leukocyte Vacuolation; Ichthyotic neutral lipid storage disease; Neutral lipid storage disease with ichthyosis; NLSDI; Triglyceride storage disease with ichthyosis; Triglyceride storage disease with impaired long-chain fatty acid oxidation

Inheritance pattern

Autosomal recessive

Related genes

ABHD5

Source: MedlinePlus Genetics, U.S. National Library of Medicine.