📂 Diseases
multiple epiphyseal dysplasia — Definition
Multipl epifizyal displazi / multiple epiphyseal dysplasia
Multipl epiphysial dysplasia is a genetically transitioned skeleton dysplasia, characterized by abnormal development and osssification of bones in the end parts of the bones. The disease often manifests itself with joint pain, stiffness and walking strength during childhood. Early osteoarthritis development risk increases in the joints of weight, such as hip, knee and ankle. Radological findings include straightening, irregularity and delayed bonelification in epiphyses.
Disease Definition
🔬 Disease Definition
Multiple epiphyseal dysplasia (MED), epifizlerin (kemik uçları) anormal gelişimi ile karakterize, genetik geçişli bir iskelet displazisidir. Genellikle çocukluk döneminde ortaya çıkar ve eklem ağrısı, sertlik ile erken osteoartrite yol açar.
🧬 Causes & Risk Factors
Genellikle otozomal dominant geçişli olup, COMP, COL9A1, COL9A2, COL9A3 veya MATN3 genlerindeki mutasyonlardan kaynaklanır. Nadiren otozomal resesif formlar da görülür.
🩺 Symptoms & Signs
Eklem ağrısı (özellikle kalça ve dizlerde), sertlik, yürüme güçlüğü, boy kısalığı, parmaklarda kısalık ve eklem deformiteleri (genu varum veya genu valgum gibi).
📋 Diagnostic Methods
Klinik muayene, aile öyküsü, radyografik bulgular (epifizlerde düzleşme, düzensizlik ve gecikmiş kemik yaşı) ve genetik testler ile konur.
💊 Treatment Options
Semptomatik tedavi: ağrı yönetimi (NSAİİ), fizik tedavi, eklem koruyucu önlemler. İleri vakalarda osteotomi veya eklem protezi cerrahisi.
⚠️ Complications
Erken başlangıçlı osteoartrit, eklem kontraktürleri, kronik ağrı, fonksiyonel kısıtlılık.
Frequently Asked Questions
❓ What is Multipl epifizyal displazi?
Multipl epifizyal displazi; multipl epiphysial dysplasia is a genetically transitioned skeleton dysplasia, characterized by abnormal development and osssification of bones in the end parts of the bones. The disease often manifests itself with joint pain, stiffness and walking strength during childhood. Early osteoarthritis development risk increases in the joints of weight, such as hip, knee and ankle. Radological findings include straightening, irregularity and delayed bonelification in epiphyses.
❓ What is multiple epiphyseal dysplasia in Turkish?
The Turkish equivalent of "multiple epiphyseal dysplasia" is Multipl epifizyal displazi.
❓ Which medical field is Multipl epifizyal displazi related to?
This term belongs to the Diseases category.