Metachondromatosis

Metachondromatosis is an autosomal dominant, [2] incompletely penetrant[3] skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas.[3] This tumor syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones.[4]

Metachondromatosis
Other namesMETCDS[1]
Metachondromatosis has an autosomal dominant pattern of inheritance.

Genetics

Metachondromatosis is inherited in an autosomal dominant manner.[3] This means that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

It has been associated with PTPN11.[3]

References
  1. "Metachondromatosis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 27 June 2019.
  2. Kennedy LA (1983). "metachondromatosis". Radiology. 148 (1): 117–8. doi:10.1148/radiology.148.1.6602353. PMID 6602353.
  3. Sobreira NL, Cirulli ET, Avramopoulos D, et al. (2010). "Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene". PLOS Genet. 6 (6): e1000991. doi:10.1371/journal.pgen.1000991. PMC 2887469. PMID 20577567.
  4. Hunter AG, Kozlowski K, Hochberger O (1995). "Metachondromatosis". Can Assoc Radiol J. 46 (3): 202–8. PMID 7538882.
Classification
External resources


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