📂 Diseases
branchiootic syndrome 1 — Definition
Dalak-yayık sendromu 1 / branchiootic syndrome 1
Dalak-yayık syndrome 1 is a genetic disease with autozomal dominant transition, which occurs as a result of developmental anomalies of first and second legial arcs. The disease manifests itself in characteristicly with brankal slitulas or cysts, hearing loss and kidney anomalies. In addition, preauricular pits in patients, ear bucket deformities and sometimes facial asymmetry can also be seen. This syndrome consists of mutations in the EYA1 gene and clinical findings may vary between individuals.
Disease Definition
🔬 Disease Definition
Branchiootic syndrome 1 (BOS1), branchial ark anomalileri, işitme kaybı ve preauriküler fistüller ile karakterize, otozomal dominant geçişli bir genetik hastalıktır. EYA1 genindeki mutasyonlardan kaynaklanır.
🧬 Causes & Risk Factors
EYA1 genindeki mutasyonlar (8q13.3). Otozomal dominant kalıtım; aile öyküsü olmayan de novo mutasyonlar da görülebilir.
🩺 Symptoms & Signs
Branchial yarık fistülleri veya kistleri (genellikle ikinci branchial ark), preauriküler çukurlar/etiketler, sensörinöral, iletim tipi veya mikst işitme kaybı, böbrek anomalileri (nadiren), lakrimal kanal stenozu.
📋 Diagnostic Methods
Klinik değerlendirme (branchial fistül, preauriküler bulgular, işitme kaybı), odyolojik testler, renal ultrason, EYA1 genetik testi (tanıyı doğrular).
💊 Treatment Options
Branchial fistül/kistlerin cerrahi eksizyonu, işitme kaybı için işitme cihazı veya koklear implant, böbrek anomalileri için nefrolojik takip.
⚠️ Complications
Tekrarlayan branchial kist enfeksiyonları, fistül traktında apse, tedavi edilmeyen işitme kaybına bağlı konuşma ve gelişim geriliği, kronik böbrek hastalığı (nadir).
Frequently Asked Questions
❓ What is Dalak-yayık sendromu 1?
Dalak-yayık sendromu 1; dalak-yayık syndrome 1 is a genetic disease with autozomal dominant transition, which occurs as a result of developmental anomalies of first and second legial arcs. The disease manifests itself in characteristicly with brankal slitulas or cysts, hearing loss and kidney anomalies. In addition, preauricular pits in patients, ear bucket deformities and sometimes facial asymmetry can also be seen. This syndrome consists of mutations in the EYA1 gene and clinical findings may vary between individuals.
❓ What is branchiootic syndrome 1 in Turkish?
The Turkish equivalent of "branchiootic syndrome 1" is Dalak-yayık sendromu 1.
❓ Which medical field is Dalak-yayık sendromu 1 related to?
This term belongs to the Diseases category.