Exostoses, Multiple, Type I

Alternative Names

  • EXT1
  • EXT
  • Multiple Cartilaginous Exostoses
  • Diaphyseal Aclasis
  • Multiple Osteochondromas
  • Osteochondromatosis
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

133700

Mode of Inheritance

Autosomal dominant

Gene Map Locus

8q24.11

Description

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. Two conditions in which multiple exostoses occur are metachondromatosis and the Langer-Giedion syndrome; the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP), occipital horn syndrome, and the adult stage of hereditary hypophosphatemia; 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. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
133700.1.1Saudi ArabiaFemaleYesNo Ectopic ossificationNM_000127.3:c.2132G>AHeterozygousAutosomal, DominantMaddirevula et al. 2018
133700.1.2Saudi ArabiaFemaleYesNo Ectopic ossificationNM_000127.3:c.2132G>AHeterozygousAutosomal, DominantMaddirevula et al. 2018 Relative of 133700.1...
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