Metachondromatosis

Definition:

Metachondromatosis (MC) is a rare, autosomal dominant condition affecting the growth of bones. It is characterized by exostoses (osteochondromas) and enchondromas. Exostotic lesions occur frequently in the digits and tend to grow toward the joint. MC exostoses may regress or even resolve over time.

References:

[1]. L A Kennedy, et al. Metachondromatosis. Radiology. 1983 Jul;148(1):117-8. [Content Brief]

[2]. Margot E Bowen, et al. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet. 2011 Apr;7(4):e1002050. [Content Brief]

[3]. Nara L M Sobreira, et al. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet. 2010 Jun 17;6(6):e1000991. [Content Brief]

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