Farber lipogranulomatosis

A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

Also known as: Farber disease, Farber lipogranulomatosis, N-LAURYLSPHINGOSINE deacylase deficiency, acid ceramidase deficiency, AC deficiency, FRBRL, Farber's disease, N-Laurylsphingosine deacylase deficiency

1 clinical trial for this condition and its sub-types, 1 tagged with Farber lipogranulomatosis itself.