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Exostoses, multiple, type III(EXT3)

MedGen UID:
333090
Concept ID:
C1838420
Disease or Syndrome
Synonym: EXT3
 
Monarch Initiative: MONDO:0010846
OMIM®: 600209

Clinical features

From HPO
Multiple congenital exostosis
MedGen UID:
4612
Concept ID:
C0015306
Congenital Abnormality
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%).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

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
Li Y, Wang Z, Chen M, Cai H
J Orthop Surg Res 2020 Dec 9;15(1):594. doi: 10.1186/s13018-020-02137-z. PMID: 33298090Free PMC Article
Jo AR, Jung ST, Kim MS, Oh CS, Min BJ
J Hand Surg Am 2017 Apr;42(4):292.e1-292.e8. Epub 2017 Feb 27 doi: 10.1016/j.jhsa.2017.01.010. PMID: 28249791
Mooij HL, Cabrales P, Bernelot Moens SJ, Xu D, Udayappan SD, Tsai AG, van der Sande MA, de Groot E, Intaglietta M, Kastelein JJ, Dallinga-Thie GM, Esko JD, Stroes ES, Nieuwdorp M
J Am Heart Assoc 2014 Dec 2;3(6):e001274. doi: 10.1161/JAHA.114.001274. PMID: 25468659Free PMC Article

Diagnosis

Mooij HL, Cabrales P, Bernelot Moens SJ, Xu D, Udayappan SD, Tsai AG, van der Sande MA, de Groot E, Intaglietta M, Kastelein JJ, Dallinga-Thie GM, Esko JD, Stroes ES, Nieuwdorp M
J Am Heart Assoc 2014 Dec 2;3(6):e001274. doi: 10.1161/JAHA.114.001274. PMID: 25468659Free PMC Article
Roberts IS, Gleadle JM
J Am Soc Nephrol 2008 Mar;19(3):450-3. Epub 2008 Jan 23 doi: 10.1681/ASN.2007080842. PMID: 18216313
Itin PH, Bohn S, Mathys D, Guggenheim R, Richard G
Dermatology 1996;193(4):349-52. doi: 10.1159/000246290. PMID: 8993967
Nagai T, Nishimura G, Kasai H, Hasegawa T, Kato R, Ohashi H, Fukushima Y
Am J Med Genet 1994 Feb 1;49(3):278-80. doi: 10.1002/ajmg.1320490307. PMID: 8209886

Therapy

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

Prognosis

Li Y, Wang Z, Chen M, Cai H
J Orthop Surg Res 2020 Dec 9;15(1):594. doi: 10.1186/s13018-020-02137-z. PMID: 33298090Free PMC Article
Li Y, Lin X, Zhu M, Li J, Yuan Z, Xu H
Mol Med Rep 2020 Sep;22(3):2469-2477. Epub 2020 Jul 6 doi: 10.3892/mmr.2020.11298. PMID: 32705272Free PMC Article
Jo AR, Jung ST, Kim MS, Oh CS, Min BJ
J Hand Surg Am 2017 Apr;42(4):292.e1-292.e8. Epub 2017 Feb 27 doi: 10.1016/j.jhsa.2017.01.010. PMID: 28249791

Clinical prediction guides

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
Li Y, Lin X, Zhu M, Li J, Yuan Z, Xu H
Mol Med Rep 2020 Sep;22(3):2469-2477. Epub 2020 Jul 6 doi: 10.3892/mmr.2020.11298. PMID: 32705272Free PMC Article
Jo AR, Jung ST, Kim MS, Oh CS, Min BJ
J Hand Surg Am 2017 Apr;42(4):292.e1-292.e8. Epub 2017 Feb 27 doi: 10.1016/j.jhsa.2017.01.010. PMID: 28249791

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