📂 Diseases
Gorlin-Chaudhry-Moss syndrome — Definition
Gorlin-Chaudhry-Moss sendromu / Gorlin-Chaudhry-Moss syndrome
Gorlin-Chaudhry-Moss syndrome is a rare genetic disease characterized by raniophasal and skeleton anomalies. Among the main findings, early boiling in the skull bones (creationocytosis) and abnormalities in the face bones. Dental development disorders, nail hypoplasia and intelligence backrest are often observed in patients. This syndrome showing autozomal dominant inheritance is caused by mutations in GLI3 gene.
Disease Definition
🔬 Disease Definition
Gorlin-Chaudhry-Moss sendromu, kraniyofasiyal ve ekstremite anomalileri ile karakterize nadir bir genetik bozukluktur. İlk kez 1960 yılında tanımlanmıştır.
🧬 Causes & Risk Factors
Otozomal resesif kalıtım gösterir; spesifik gen mutasyonları (örneğin, SLC35A2 geni) ile ilişkilendirilmiştir.
🩺 Symptoms & Signs
Kraniyosinostoz (erken kafatası kemik kaynaşması), yüz dismorfisi (hipertelorizm, mikrognati), el ve ayak anomalileri (polidaktili, sindaktili), zeka geriliği, görme ve işitme sorunları.
📋 Diagnostic Methods
Klinik değerlendirme, radyolojik görüntüleme (kraniyal BT, el-ayak grafileri), genetik testler (SLC35A2 mutasyon analizi) ile konur.
💊 Treatment Options
Semptomatik ve multidisipliner yaklaşım: kraniyosinostoz için cerrahi, ortopedik müdahaleler, işitme cihazları, gelişimsel destek.
⚠️ Complications
Artmış kafa içi basıncı, öğrenme güçlükleri, tekrarlayan kulak enfeksiyonları, eklem kontraktürleri.
Frequently Asked Questions
❓ What is Gorlin-Chaudhry-Moss sendromu?
Gorlin-Chaudhry-Moss sendromu; gorlin-Chaudhry-Moss syndrome is a rare genetic disease characterized by raniophasal and skeleton anomalies. Among the main findings, early boiling in the skull bones (creationocytosis) and abnormalities in the face bones. Dental development disorders, nail hypoplasia and intelligence backrest are often observed in patients. This syndrome showing autozomal dominant inheritance is caused by mutations in GLI3 gene.
❓ What is Gorlin-Chaudhry-Moss syndrome in Turkish?
The Turkish equivalent of "Gorlin-Chaudhry-Moss syndrome" is Gorlin-Chaudhry-Moss sendromu.
❓ Which medical field is Gorlin-Chaudhry-Moss sendromu related to?
This term belongs to the Diseases category.