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