📂 Diseases
Waardenburg syndrome type 2D — Definition
Waardenburg sendromu tip 2D / Waardenburg syndrome type 2D
Waardenburg syndrome type 2D is a genetic disease characterized by autosomal dominant passage and especially hearing loss, white perch (lökoderma), iris heterochromemia ( different color in the eyes) and hypopigmented areas on the skin. This lower type is caused by mutations in SLUG (SNAI2) gene and can exhibit a lighter clinical picture compared to other types of Waardenburg syndrome. Patients often experience sensor congenital hearing loss and typical findings such as dystopi kantorum (slip since the inner corners of the eye) can be seen. The diagnosis is verified by clinical criteria and genetic tests, the treatment contains supporting approaches for symptoms.
Disease Definition
🔬 Disease Definition
Waardenburg sendromu tip 2D, otozomal dominant geçişli, işitme kaybı ve pigmentasyon anormallikleri ile karakterize genetik bir hastalıktır. SLUG (SNAI2) genindeki mutasyonlardan kaynaklanır.
🧬 Causes & Risk Factors
SLUG (SNAI2) genindeki mutasyonlar, nöral krest hücrelerinin gelişimini etkileyerek melanositlerin ve işitme sinir hücrelerinin oluşumunu bozar.
🩺 Symptoms & Signs
Sensorinöral işitme kaybı, saçta beyaz perçem (poliosis), ciltte hipopigmente lekeler, iris heterokromisi (farklı renkli gözler), distopia canthorum (göz iç kantuslarının lateral yer değiştirmesi) yoktur.
📋 Diagnostic Methods
Klinik değerlendirme, odyolojik testler, oftalmolojik muayene ve SLUG geni mutasyon analizi ile konur.
💊 Treatment Options
İşitme kaybı için işitme cihazları veya koklear implant; pigmentasyon sorunları için güneş koruyucu ve kozmetik önlemler; genetik danışmanlık.
⚠️ Complications
İleri derecede işitme kaybı, iletişim sorunları, psikososyal etkiler.
Frequently Asked Questions
❓ What is Waardenburg sendromu tip 2D?
Waardenburg sendromu tip 2D; waardenburg syndrome type 2D is a genetic disease characterized by autosomal dominant passage and especially hearing loss, white perch (lökoderma), iris heterochromemia ( different color in the eyes) and hypopigmented areas on the skin. This lower type is caused by mutations in SLUG (SNAI2) gene and can exhibit a lighter clinical picture compared to other types of Waardenburg syndrome. Patients often experience sensor congenital hearing loss and typical findings such as dystopi kantorum (slip since the inner corners of the eye) can be seen. The diagnosis is verified by clinical criteria and genetic tests, the treatment contains supporting approaches for symptoms.
❓ What is Waardenburg syndrome type 2D in Turkish?
The Turkish equivalent of "Waardenburg syndrome type 2D" is Waardenburg sendromu tip 2D.
❓ Which medical field is Waardenburg sendromu tip 2D related to?
This term belongs to the Diseases category.