Multiple Hereditary Exostoses

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.

Also Known As:

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

Neoplasms: 1324753
- Hereditary Neoplastic Syndromes: 112
  - Multiple Hereditary Exostoses: 172
- Neoplasms by Histologic Type: 2
  - Connective and Soft Tissue Neoplasms: 1
    - Connective Tissue Neoplasms: 9
      - Bone Tissue Neoplasms: 1
        Osteochondroma: 292
        Osteochondromatosis: 17
        Multiple Hereditary Exostoses: 172
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Hyperostosis: 347
    - Exostoses: 262
      - Multiple Hereditary Exostoses: 172
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Osteochondroma: 292
        Osteochondromatosis: 17
        Multiple Hereditary Exostoses: 172
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hereditary Neoplastic Syndromes: 112
    - Multiple Hereditary Exostoses: 172

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