Hereditary multiple osteochondromas
Autozomálně dominantní · About 1 in 50,000 people.
A condition caused mainly by variants in EXT1 or EXT2 in which benign cartilage-capped bone growths develop at the ends of long bones.
Co se diagnózou změní
Knowing allows monitoring for growth problems and for the small lifetime risk (around 2 to 5%) that an osteochondroma becomes a chondrosarcoma.
Známé také jako
Bessel-Hagen disease; exostoses, multiple; EXT; hereditary multiple exostoses; hereditary multiple exostoses 1; hereditary multiple exostoses 2; hereditary multiple exostoses 3; hereditary multiple exostosis; HMO; multiple cartilaginous exostoses; multiple exostoses; osteochondromatosis syndrome; osteochondromatosis syndrome (disorder) [ambiguous]
Zahrnuje 3 příbuzných podtypů ↓Skrýt podtypy ↑
- exostoses, multiple, type 1
- exostoses, multiple, type 2
- exostoses, multiple, type III
