Blau syndrome [Supplementary Concept]
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. YAO SYNDROME is an allelic disorder to Blau Syndrome. OMIM: 186580
Date introduced: August 25, 2010
MeSH Unique ID: C538157
Heading Mapped to:
Entry Terms:
- Familial Juvenile Systemic Granulomatosis
- Pediatric Granulomatous Arthritis
- Synovitis granulomatous with uveitis and cranial neuropathies
- Arthrocutaneouveal granulomatosis
- Granulomatosis, familial, Blau type
- Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies
- Early-Onset Sarcoidosis
- Familial Granulomatosis, Blau Type
- Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial
- Granulomatosis, familial juvenile systemic
- Jabs syndrome
- Sarcoidosis, Early-Onset
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