Metachondromatosis

Metachondromatosis (MC) is a hereditary disorder characterized by benign cartilage-capped tumors (exostoses) (ostechondromas), commonly of the hands and feet, and enchondromas of long bone metaphyses and iliac crest. The majority of patients have multiple hard and painless nodules on multiple digits, which can be sometimes calcified. In addition develop irregularities on the metaphyses of the long bones and the iliac crest, which are histologically enchondromas. MC exostoses may regress or even resolve over time, and short stature is not characteristic of MC. The clinical features of MC overlap with another autosomal dominant disorder, hereditary multiple exostoses (HME). However, the location, orientation and duration of exostoses differ between both disorders. For instance, the exostoses in HME usually do not resolve and may cause permanent deformity. While the osteochondromas in HME point away from the adjacent epiphysis and rarely affect the hands and feet, those in MC point toward the epiphysis and are preferentially located on the hands and feet. In contrast to HME, which is in 1-5% of patients associated with development of malignant chondrosarcoma, no increased risk for malignancies has been reported in MC. Metachondromatosis was shown to be caused by loss-of-function mutations in the PTPN11 gene.

Tests Available

Forms and Documents

Test Details

EXT1, EXT2, PTPN11
  • Confirmation of the clinical diagnosis
  • To differentiate between the disorders presenting with osteochondromas
  • Prenatal diagnosis in at-risk pregnancies
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T996
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81406x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Jennes et al. (2009) Human Mutation 30 (12):1620-7 (PMID: 19810120).
  2. Signori et al. (2007) Genes, Chromosomes & Cancer 46 (5):470-7 (PMID: 17301954).
  3. Vink et al. (2005) European Journal Of Human Genetics : Ejhg 13 (4):470-4 (PMID: 15586175).
  4. Porter et al. (2004) J Bone Joint Surg Br 86 (7):1041-6 (PMID: 15446535).
  5. Bowen et al. (2011) P Lo S Genetics 7 (4):e1002050 (PMID: 21533187).
  6. Fisher et al. (2013) J Child Orthop 7 (6):455-64 (PMID: 24432109).
  7. Jennes et al. (2008) The Journal Of Molecular Diagnostics : Jmd 10 (1):85-92 (PMID: 18165274).
  8. Wuyts W, Schmale GA, Chansky HA, et al. Hereditary Multiple Osteochondromas. 2000 Aug 3 [Updated 2013 Nov 21]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  9. Pedrini et al. (2005) Human Mutation 26 (3):280 (PMID: 16088908).
  10. Wuyts et al. (2005) Clinical Genetics 68 (6):542-7 (PMID: 16283885).
  11. Heinritz et al. (2009) Annals Of Human Genetics 73 (Pt 3):283-91 (PMID: 19344451).