Farber lipogranulomatosis
Farber lipogranulomatosis
Definition
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 acid ceramidase deficiency, Farber disease, Farber lipogranulomatosis, N-LAURYLSPHINGOSINE deacylase deficiency — per MONDO