Torg syndrome

Definition:

Torg syndrome, also known as Multicentric osteolysis, nodulosis, and arthropathy (MONA) is a multicentric osteolysis syndrome characterized by progressive bone loss in hands and feet. MMP2 mutations are reported in patients with Torg-Winchester syndrome.

References:

[1]. Andreas Zankl, et al. Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. J Bone Miner Res. 2007 Feb;22(2):329-33. [Content Brief]

[2]. Seon-Yong Jeong, et al. A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. J Hum Genet. 2010 Nov;55(11):764-6. [Content Brief]

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