Metachondromatosis
 | This article needs additional citations for verification. (June 2010) |
| Metachondromatosis | |
|---|---|
| Other names | METCDS[1] |
 | |
| Metachondromatosis has an autosomal dominant pattern of inheritance. | |
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]
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]
Diagnosis
![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (July 2017) |
Treatment
| This section is empty. You can help by adding to it. (July 2017) |
References
- ^ "Metachondromatosis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 27 June 2019.
- ^ Kennedy LA (1983). "metachondromatosis". Radiology. 148 (1): 117–8. doi:10.1148/radiology.148.1.6602353. PMID 6602353.
- ^ 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.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ Hunter AG, Kozlowski K, Hochberger O (1995). "Metachondromatosis". Can Assoc Radiol J. 46 (3): 202–8. PMID 7538882.
External links
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |