The most common phenotype of ASAH1 defects, namely Farber lipogranulomatosis (OMIMI #228000), is characterized by typical symptoms, including early‐onset subcutaneous nodules, painful and progressively deformed joints, hoarseness by laryngeal involvement, as well as various combinations of respiratory, adult‐onset peripheral osteolysis, and central and peripheral nervous system manifestations. The gene discussed is ASAH1; the disease is Farber lipogranulomatosis.