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

  • Confirmation of a clinical diagnosis
  • To differentiate between the disorders of the Noonan syndrome spectrum
  • Prenatal diagnosis
  • Capillary Sequencing Reflex to Exon Array


3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


  • 759.8 Other specified anomalies
  • 744.9 Unspecified anomalies of face and neck Congenital: anomaly NOS of face [any part] or neck [any part] deformity, NOS of face [any part] or neck [any part]
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  1. Tartaglia M et al. Am J Hum Genet 70:1555-63, 2002
  2. Tartaglia & Gelb. Ann Rev Genomics Hum Genet 6:45-68, 2005
  3. Schubbert et al., Nature Genetics 38:331-336, 2006
  4. Carta C et al. Am J Hum Genet 79:129-135, 2006
  5. Roberts et al. Nat Genet 39:70-4, 2007
  6. Tartaglia et al. Nat Genet. 39:75-9, 2007
  7. Pandit B et al. Nat Genet. 39: 1007-12, 2007
  8. Razzaque MA et al. Nat Genet. 39:1013-17, 2007
  9. Rodriguez- Viciana, et al. Science 311:1287-90, 2006
  10. Niihori, et al. Nature Genetics. 38: 294-296, 2006
  11. Narumi et al. Am J Med Genet, 143:799-809, 2007
  12. Aoki Y et al. Nat Genet. 37:1038-40, 2005
  13. Costello JM. Am J Med Genet. 62:199-201, 1996
  14. Estep AL et al. Am J Med Genet A. 140:8-16, 2006
  15. Gripp KW. Am J Med Genet C Semin Med Genet. 137:72-7, 2005
  16. Gripp KW et al. Am J Med Genet A. 140:1-7, 2006
  17. Kerr B et al. J Med Genet. 43:401-5, 2006
  18. Lin AE et al. Am J Med Genet. 111:115-29, 2002
  19. White SM. Am J Med Genet A. 136:128-35, 2005
  20. Cordeddu Nat Genet 41:1022-1026, 2009
  21. Sobreira NL., et al., (2010) PLoS Genet. Jun 17;6(6): e1000991
  22. Vink JR et al., (2005) Eur J Hum Genet 13:470-474.
  23. Bowen ME., et al., (2011) PLos Genet. Apr 7(4):e1002050