/multicentric osteolysis, nodulosis, and arthropathy

multicentric osteolysis, nodulosis, and arthropathy

Rare Disease

MONDO:0009809

Also Known As

Al-Aqeel Sewairi syndromeMONAMONA, MMP2-relatedNAO syndromeTorg syndromeWinchester-Torg syndromemulticentric osteolysis, nodulosis and arthropathy, MMP2-relatedmulticentric osteolysis, nodulosis, and arthropathynodulosis-arthropathy-osteolysis syndromeosteolysis, hereditary multicentricTorg-Winchester syndromeTorg-Winchester syndrome, formerly

Definition

A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.