📂 Diseases
Spondyloperipheral dysplasia — Definition
Spondiloperiferik displazi / Spondyloperipheral dysplasia
Spondyloperiferic dysplasia is a rare skeleton dysplasia that affects the backbone (spondilo) and the parts of the limbs (periferic). The disease is characterized by shortness in short neck, spine curves and hand-foot fingers. Autozomal indicates dominant inheritance and is usually caused by mutations in COL2A1 gene. Clinical findings include platispondyl (regular vertebra) and metaphysiel dysplasia.
Disease Definition
🔬 Disease Definition
Spondyloperipheral dysplasia, iskelet displazileri grubunda nadir görülen bir genetik bozukluktur. Kısa boy, omurga anomalileri ve periferik iskelet deformiteleri ile karakterizedir.
🧬 Causes & Risk Factors
Genellikle COL2A1 genindeki mutasyonlardan kaynaklanır. Otozomal dominant kalıtım gösterir.
🩺 Symptoms & Signs
Kısa boy, platispondili (düzleşmiş omurlar), kalça displazisi, el ve ayak parmaklarında kısalık, eklem hipermobilitesi.
📋 Diagnostic Methods
Klinik değerlendirme, radyografik bulgular (omurga ve ekstremite görüntüleme) ve genetik test (COL2A1 mutasyon analizi) ile konur.
💊 Treatment Options
Semptomatik tedavi: Fizik tedavi, ortopedik cerrahi (kalça displazisi için), ağrı yönetimi. Spesifik bir tedavisi yoktur.
⚠️ Complications
Erken osteoartrit, spinal stenoz, solunum sıkıntısı (ciddi toraks deformitelerinde).
Frequently Asked Questions
❓ What is Spondiloperiferik displazi?
Spondiloperiferik displazi; spondyloperiferic dysplasia is a rare skeleton dysplasia that affects the backbone (spondilo) and the parts of the limbs (periferic). The disease is characterized by shortness in short neck, spine curves and hand-foot fingers. Autozomal indicates dominant inheritance and is usually caused by mutations in COL2A1 gene. Clinical findings include platispondyl (regular vertebra) and metaphysiel dysplasia.
❓ What is Spondyloperipheral dysplasia in Turkish?
The Turkish equivalent of "Spondyloperipheral dysplasia" is Spondiloperiferik displazi.
❓ Which medical field is Spondiloperiferik displazi related to?
This term belongs to the Diseases category.