Search
multicentric osteolysis nodulosis & arthropathy (MONA); nodularis arthropathy-osteolysis syndrome (NAO syndrome)
Inherited osteolyses or 'vanishing bone' syndrome Winchester syndrome & NAO syndrome are allelic disorders that form a continuous clinical spectrum.
Epidemiology:
- rare
Pathology:
- destruction & resorption of affected bones
Genetics:
- autosomal recessive
- associated with defects in MMP2
Clinical manifestations:
- osteolysis with multicentric involvement
- carpal & tarsal resorption
- crippling arthritic changes
- marked osteoporosis
- palmar & plantar subcutaneous nodules
- distinctive facies
General
inherited disorder of osteolysis; vanishing bone syndrome; osteolysis syndrome
Database Correlations
OMIM 605156
References
- OMIM :accession 605156
- UniProt :accession P08253