Catalog

Farber disease

No MMS code

Link to WHO Definition

Farber disease – http://id.who.int/icd/entity/122136943

Farber disease is one of the rarest forms of lysosomal disease with high clinical variability. The most frequent signs are: periarticular subcutaneous nodules, contractures (which account for painful clinical examination), hoarseness, neurological symptoms, and sometimes hepatosplenomegaly.