ORPHA:90340
Blau syndrome
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal dominant, Not applicable
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Denmark)
- Rarity class
- <1 / 1 000 000
ORPHA:90340 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Keratitis
- Hyperpigmentation of the skin
- Skin rash
- Iridocyclitis
- Limitation of joint mobility
- Joint swelling