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Farber disease

Disease definition

A subcutaneous tissue disease 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.

ORPHA:333

Classification level: Disorder
  • Synonym(s):
    • Acid ceramidase deficiency
    • Farber lipogranulomatosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood, Antenatal
  • ICD-10: E75.2
  • OMIM: 228000
  • UMLS: C0268255  C2936785
  • MeSH: C537075  D055577
  • GARD: 6426
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.