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What is Farber's disease?

Farber's disease describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. The symptoms are typically seen in the first few weeks of life and include impaired motor and mental ability and difficulty with swallowing. Other symptoms include arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), chronic shortening of the muscles or tendons around the joints, and vomiting. Affected persons may require the insertion of a breathing tube. In severe cases, the liver and the spleen are enlarged. The disease occurs when both parents carry and pass on the defective gene that regulates the protein, sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.

 This answer is based on source information from theNational Institute of Neurological Disorders and Stroke.

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