Farber lipogranulomatosis

Farber lipogranulomatosis A very rare, deadly genetic disease that is characterized by the onset, in the first few weeks of life, of swollen, painful joints; nodules under the skin; profound motor and developmental delay; cherry-red spots in the retina; and cardiorespiratory problems. The disease is inherited as an autosomal recessive trait and is due to a deficiency of the enzyme acid ceramidase. Farber lipogranulomatosis is one of the sphingolipidoses, a group of genetic diseases that involve overproduction or accumulation of fatty substances called sphingolipids in the brain and nervous system. See also sphingolipidosis.