Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:333

Farber disease

Also called Acid ceramidase deficiency, Farber lipogranulomatosis

Body system
Skin diseases
Inheritance pattern
Autosomal recessive
Typical age of onset
Antenatal, Childhood, Infancy, Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:333 is classified under "Skin diseases" in the Orphanet nomenclature.

Common signs

  • Arthritis
  • Flexion contracture
  • Joint swelling
  • Hoarse voice
  • Periarticular subcutaneous nodules
  • Abnormal enzyme/coenzyme activity