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Exostoses, multiple, type 1(EXT1)

MedGen UID:
946317
Concept ID:
CN263289
Disease or Syndrome
Synonyms: EXOSTOSES, MULTIPLE, TYPE I; EXT1; Hereditary Multiple Osteochondromatosis, Type I
 
Gene (location): EXT1 (8q24.11)
 
Monarch Initiative: MONDO:0007585
OMIM®: 133700

Disease characteristics

Excerpted from the GeneReview: Hereditary Multiple Osteochondromas
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 for malignant degeneration is low (~2%-5%). [from GeneReviews]
Authors:
Wim Wuyts  |  Gregory A Schmale  |  Howard A Chansky, et. al.   view full author information

Additional description

From OMIM
Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989). Two conditions in which multiple exostoses occur are metachondromatosis (156250) and the Langer-Giedion syndrome (LGS; 150230); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP; 135100), occipital horn syndrome (304150), and the adult stage of hereditary hypophosphatemia (see 307800); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985). Genetic Heterogeneity of Multiple Exostoses Multiple exostoses type II (EXT2; 133701) is caused by mutation in the EXT2 gene (608210) on chromosome 11p11. Multiple exostoses type III (EXT3; 600209) has been mapped to a locus on chromosome 19.  http://www.omim.org/entry/133700

Professional guidelines

PubMed

Refsland S, Kozin SH, Zlotolow DA
J Hand Surg Am 2016 Sep;41(9):888-95. Epub 2016 Aug 1 doi: 10.1016/j.jhsa.2016.06.008. PMID: 27491595
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

Recent clinical studies

Etiology

Ueda K, Inokoshi M, Kubota K, Yamaga E, Minakuchi S
Clin Oral Investig 2023 Dec 26;28(1):22. doi: 10.1007/s00784-023-05424-1. PMID: 38147161
Madoki A, Tuerlinckx C, Rausin G, Guiraud K, Docquier PL
Acta Orthop Belg 2022 Mar;88(1):198-205. doi: 10.52628/88.1.25. PMID: 35512172
Komura S, Matsumoto K, Hirakawa A, Akiyama H
J Hand Surg Am 2021 Sep;46(9):815.e1-815.e12. Epub 2021 Feb 26 doi: 10.1016/j.jhsa.2020.12.011. PMID: 33642092
Wenstedt EFE, Oppelaar JJ, Besseling S, Rorije NMG, Olde Engberink RHG, Oosterhof A, van Kuppevelt TH, van den Born BH, Aten J, Vogt L
J Transl Med 2021 Jan 20;19(1):38. doi: 10.1186/s12967-021-02700-0. PMID: 33472641Free PMC Article
Matsumoto K, Ogawa H, Nozawa S, Akiyama H
Osteoporos Int 2020 Dec;31(12):2355-2361. Epub 2020 Jul 8 doi: 10.1007/s00198-020-05533-7. PMID: 32642853

Diagnosis

Komura S, Matsumoto K, Hirakawa A, Akiyama H
J Hand Surg Am 2021 Sep;46(9):815.e1-815.e12. Epub 2021 Feb 26 doi: 10.1016/j.jhsa.2020.12.011. PMID: 33642092
Matsumoto K, Ogawa H, Nozawa S, Akiyama H
Osteoporos Int 2020 Dec;31(12):2355-2361. Epub 2020 Jul 8 doi: 10.1007/s00198-020-05533-7. PMID: 32642853
Sabir AH, Cole T
Orphanet J Rare Dis 2019 Dec 30;14(1):300. doi: 10.1186/s13023-019-1222-2. PMID: 31888683Free PMC Article
Baig MN, O'Malley S, Fenelon C, Kaar K
BMJ Case Rep 2019 Aug 22;12(8) doi: 10.1136/bcr-2019-230246. PMID: 31444263Free PMC Article
McFarlane J, Knight T, Sinha A, Cole T, Kiely N, Freeman R
Acta Orthop Belg 2016 Mar;82(1):102-5. PMID: 26984661

Therapy

Ueda K, Inokoshi M, Kubota K, Yamaga E, Minakuchi S
Clin Oral Investig 2023 Dec 26;28(1):22. doi: 10.1007/s00784-023-05424-1. PMID: 38147161
Ostetto F, Lana D, Tuzzato G, Staals E, Donati DM, Bianchi G
Hip Int 2023 Mar;33(2):161-168. Epub 2021 Jun 16 doi: 10.1177/11207000211025051. PMID: 34134547
Lu Y, Canavese F, Lin R, Huang Y, Wu X, Lin B, Chen S
Int Orthop 2022 Dec;46(12):2877-2885. Epub 2022 Sep 10 doi: 10.1007/s00264-022-05551-6. PMID: 36087118
Wenstedt EFE, Oppelaar JJ, Besseling S, Rorije NMG, Olde Engberink RHG, Oosterhof A, van Kuppevelt TH, van den Born BH, Aten J, Vogt L
J Transl Med 2021 Jan 20;19(1):38. doi: 10.1186/s12967-021-02700-0. PMID: 33472641Free PMC Article
Zheng C, Han H, Cao Y
J Orthop Surg Res 2020 Nov 23;15(1):555. doi: 10.1186/s13018-020-02080-z. PMID: 33228698Free PMC Article

Prognosis

Ajmal M, Muhammad H, Nasir M, Shoaib M, Malik SA, Ullah I
Medicina (Kaunas) 2022 Dec 31;59(1) doi: 10.3390/medicina59010100. PMID: 36676722Free PMC Article
Komura S, Matsumoto K, Hirakawa A, Akiyama H
J Hand Surg Am 2021 Sep;46(9):815.e1-815.e12. Epub 2021 Feb 26 doi: 10.1016/j.jhsa.2020.12.011. PMID: 33642092
McFarlane J, Knight T, Sinha A, Cole T, Kiely N, Freeman R
Acta Orthop Belg 2016 Mar;82(1):102-5. PMID: 26984661
Tian C, Yan R, Wen S, Li X, Li T, Cai Z, Li X, Du H, Chen H
PLoS One 2014;9(4):e94848. Epub 2014 Apr 11 doi: 10.1371/journal.pone.0094848. PMID: 24728384Free PMC Article
Fan XL, Han ZJ, Gong XY, Xiang JJ, Zhu LL, Chen WH
Eur Rev Med Pharmacol Sci 2014;18(6):840-5. PMID: 24706308

Clinical prediction guides

Ajmal M, Muhammad H, Nasir M, Shoaib M, Malik SA, Ullah I
Medicina (Kaunas) 2022 Dec 31;59(1) doi: 10.3390/medicina59010100. PMID: 36676722Free PMC Article
Komura S, Matsumoto K, Hirakawa A, Akiyama H
J Hand Surg Am 2021 Sep;46(9):815.e1-815.e12. Epub 2021 Feb 26 doi: 10.1016/j.jhsa.2020.12.011. PMID: 33642092
Wenstedt EFE, Oppelaar JJ, Besseling S, Rorije NMG, Olde Engberink RHG, Oosterhof A, van Kuppevelt TH, van den Born BH, Aten J, Vogt L
J Transl Med 2021 Jan 20;19(1):38. doi: 10.1186/s12967-021-02700-0. PMID: 33472641Free PMC Article
Matsumoto K, Ogawa H, Nozawa S, Akiyama H
Osteoporos Int 2020 Dec;31(12):2355-2361. Epub 2020 Jul 8 doi: 10.1007/s00198-020-05533-7. PMID: 32642853
Fan XL, Han ZJ, Gong XY, Xiang JJ, Zhu LL, Chen WH
Eur Rev Med Pharmacol Sci 2014;18(6):840-5. PMID: 24706308

Recent systematic reviews

Cui Y, Zhao H, Liu Z, Liu C, Luan J, Zhou X, Han J
Orphanet J Rare Dis 2012 Aug 22;7:55. doi: 10.1186/1750-1172-7-55. PMID: 22913777Free PMC Article

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