Chanarin-Dorfman syndrome
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Dados do National Institutes of Health
| 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. | |
| Review Date: 07/05/2024 | Updated By: |