📂 Diseases
hereditary multiple exostoses — Definition
kalıtsal multipl ekzostozlar / hereditary multiple exostoses
Calusual multipl exosostoz is a genetic disease, characterized by the formation of benign bone protrusions (osteokondrom), in the end parts of bones (methafiz) Usually, during childhood and adolescence, and additionalzostoz with symmetrical or asymmetric settlement in multiple bones appear. The result of mutations in disease, EXT1 or EXT2 genes occurs with disruption of the heparan sulfate metabolism and can lead to complications such as neck shortness, joint movement limitation, nerve jamming. Rarely, the malignant transformation of ectoposis (condrosarkom) carries the risk of development.
Frequently Asked Questions
❓ What is kalıtsal multipl ekzostozlar?
kalıtsal multipl ekzostozlar; calusual multipl exosostoz is a genetic disease, characterized by the formation of benign bone protrusions (osteokondrom), in the end parts of bones (methafiz) Usually, during childhood and adolescence, and additionalzostoz with symmetrical or asymmetric settlement in multiple bones appear. The result of mutations in disease, EXT1 or EXT2 genes occurs with disruption of the heparan sulfate metabolism and can lead to complications such as neck shortness, joint movement limitation, nerve jamming. Rarely, the malignant transformation of ectoposis (condrosarkom) carries the risk of development.
❓ What is hereditary multiple exostoses in Turkish?
The Turkish equivalent of "hereditary multiple exostoses" is kalıtsal multipl ekzostozlar.
❓ Which medical field is kalıtsal multipl ekzostozlar related to?
This term belongs to the Diseases category.