Farber's disease


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Related to Farber's disease: Gaucher disease, disseminated lipogranulomatosis, Ceramidase deficiency, Krabbe disease, Niemann Pick disease

Farber's disease

 [fahr´berz]
a lysosomal storage disease and sphingolipidosis, transmitted as an autosomal recessive trait, due to deficiency of the enzyme ceramidase.

Farber's disease, Farber's lipogranulomatosis

[fär′bərz]
Etymology: Sidney Farber, American pediatrician, 1903-1973
a lysosomal storage disease of ceramide metabolism resulting from defective ceramidase, marked by hoarseness; aphonia; a brownish desquamating dermatitis that begins at about 3 months of age; foam cell infiltration of bones and joints that causes deformations; granulomatous reaction in lymph nodes, heart, lungs, and kidneys; and psychomotor retardation. Also called ceramidase deficiency.