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Exostoses, Multiple Hereditary

Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.

Year introduced: 1990

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Tree Number(s): C04.557.450.565.575.610.615.325, C04.700.330, C05.116.099.708.670.615.325, C05.116.540.310.500, C16.320.700.330

MeSH Unique ID: D005097

Entry Terms:

  • Hereditary Exostoses, Multiple
  • Exostoses, Multiple, Type I
  • Exostosis, Familial
  • Familial Exostosis
  • Exostosis, Hereditary Multiple
  • Multiple Exostosis, Hereditary
  • Exostosis, Multiple
  • Multiple Exostosis
  • Exostosis, Multiple Cartilaginous
  • Cartilaginous Exostosis, Multiple
  • Multiple Cartilaginous Exostosis
  • Familial Exostoses
  • Hereditary Multiple Exostoses
  • Hereditary Multiple Exostosis
  • Multiple Cartilaginous Exostoses
  • Multiple Hereditary Exostoses
  • Multiple Osteochondromas
  • Multiple Osteochondroma
  • Osteochondroma, Multiple
  • Multiple Osteochondromatosis
  • Osteochondromas, Multiple
  • Bessel-Hagen Disease
  • Chondrodysplasia, Hereditary Deforming
  • Chondrodysplasias, Hereditary Deforming
  • Deforming Chondrodysplasia, Hereditary
  • Deforming Chondrodysplasias, Hereditary
  • Hereditary Deforming Chondrodysplasia
  • Hereditary Deforming Chondrodysplasias
  • Diaphyseal Aclasis
  • Aclases, Diaphyseal
  • Aclasis, Diaphyseal
  • Diaphyseal Aclases
  • Exostoses, Familial
  • Exostoses, Hereditary Multiple
  • Multiple Exostoses, Hereditary
  • Exostoses, Multiple Cartilaginous
  • Cartilaginous Exostoses, Multiple
  • Exostoses, Multiple
  • Multiple Exostoses

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