Ärftlig rubbning som överförs med en autosomalt dominant gen och kännetecknas av multipla exostoser (benutväxter) vid ändarna av långa skelettben. Den genetiska avvikelsen leder till en defekt i osteoklastaktiviteten i benändarnas metafysdelar i samband med benomvandlingen i barnaåren eller de tidiga ungdomsåren. Metafyserna utvecklar godartade, ofta broskklädda benutväxter. Ett fåtal utvecklas till tumörer.
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.
Ärftliga multipla exostoser — Bessel-Hagens sjukdom — Multipel osteokondrom — Familjär exostos
Hereditary Exostoses, Multiple — 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 — Multiple Exostoses — Exostoses, Multiple Cartilaginous — Cartilaginous 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