A rare hereditary disorder with autosomal dominant inheritance that is characterized by SKIN RASH; ARTHRITIS; and UVEITIS. Onset is typically in children under four years of age. SYNOVITIS, anterior UVEITIS, adhesion of the IRIS to the CORNEA, and permanent bending of the fingers and toes (camptodactyly) may also occur. A mutation in the NOD2 gene has been identified. OMIM: 186580
Also Known As:
Arthrocutaneouveal granulomatosis; Early-Onset Sarcoidosis; Familial Granulomatosis, Blau Type; Familial Juvenile Systemic Granulomatosis; Granulomatosis, familial juvenile systemic; Granulomatosis, familial, Blau type; Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial; Jabs syndrome; Pediatric Granulomatous Arthritis; Sarcoidosis, Early-Onset; Synovitis granulomatous with uveitis and cranial neuropathies; Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies