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Hereditary multiple osteochondromas(HMO)

MedGen UID:
449089
Concept ID:
CN072831
Disease or Syndrome
Synonyms: Hereditary multiple exostoses; Hereditary multiple exostosis; HMO; Multiple exostoses
 
Related genes: EXT2, EXT1

Disease characteristics

Excerpted from the GeneReview: Hereditary Multiple Osteochondromas
The disorder hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%). [from GeneReviews]
Authors:
Wim Wuyts  |  Gregory A Schmale  |  Howard A Chansky, et. al.   view full author information

Recent clinical studies

Etiology

Tang ZW, Cao YL, Liu T, Chen T, Zhang XS
Eur J Orthop Surg Traumatol 2013 Jul;23(5):611-8. Epub 2012 Jul 1 doi: 10.1007/s00590-012-1033-9. PMID: 23412166
Vining NC, Done S, Glass IA, Parnell SE, Sternen DL, Leppig KA, Mosca VS, Goldberg MJ
Skeletal Radiol 2012 May;41(5):607-10. Epub 2011 Sep 4 doi: 10.1007/s00256-011-1261-9. PMID: 21892728

Diagnosis

Musso N, Caronia FP, Castorina S, Lo Monte AI, Barresi V, Condorelli DF
Cancer Genet 2015 Mar;208(3):62-7. Epub 2015 Jan 16 doi: 10.1016/j.cancergen.2015.01.002. PMID: 25744876
Vining NC, Done S, Glass IA, Parnell SE, Sternen DL, Leppig KA, Mosca VS, Goldberg MJ
Skeletal Radiol 2012 May;41(5):607-10. Epub 2011 Sep 4 doi: 10.1007/s00256-011-1261-9. PMID: 21892728
Bovée JV, Hameetman L, Kroon HM, Aigner T, Hogendoorn PC
J Pathol 2006 Jul;209(3):411-9. doi: 10.1002/path.1985. PMID: 16622899
Wuyts W, Radersma R, Storm K, Vits L
Clin Genet 2005 Dec;68(6):542-7. doi: 10.1111/j.1399-0004.2005.00538.x. PMID: 16283885

Therapy

Hameetman L, David G, Yavas A, White SJ, Taminiau AH, Cleton-Jansen AM, Hogendoorn PC, Bovée JV
J Pathol 2007 Mar;211(4):399-409. doi: 10.1002/path.2127. PMID: 17226760

Prognosis

Niedźwiecka M, Kaczmarek P, Krawczyk T, Oszukowski P, Maroszyńska I
Bone 2013 May;54(1):169-71. Epub 2013 Feb 14 doi: 10.1016/j.bone.2013.02.001. PMID: 23416845
Tang ZW, Cao YL, Liu T, Chen T, Zhang XS
Eur J Orthop Surg Traumatol 2013 Jul;23(5):611-8. Epub 2012 Jul 1 doi: 10.1007/s00590-012-1033-9. PMID: 23412166

Clinical prediction guides

Musso N, Caronia FP, Castorina S, Lo Monte AI, Barresi V, Condorelli DF
Cancer Genet 2015 Mar;208(3):62-7. Epub 2015 Jan 16 doi: 10.1016/j.cancergen.2015.01.002. PMID: 25744876

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