Metachondromatosis

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Metachondromatosis
Autosomal dominant - en.svg
Metachondromatosis has an autosomal dominant pattern of inheritance.

Metachondromatosis is an autosomal dominant[1]incompletely penetrant[2] skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas.[2] This tumor syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones.[3]

Genetics[edit]

Metachondromatosis is inherited in an autosomal dominant manner;[2] 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.[2]

Diagnosis[edit]

Treatment[edit]

References[edit]

  1. ^ Kennedy LA (1983). "metachondromatosis". Radiology. 148 (1): 117–8. doi:10.1148/radiology.148.1.6602353. PMID 6602353.
  2. ^ a b c d 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.
  3. ^ Hunter AG, Kozlowski K, Hochberger O (1995). "Metachondromatosis". Can Assoc Radiol J. 46 (3): 202–8. PMID 7538882.

External links[edit]

Classification
External resources