📂 Diseases
LADD syndrome — Definition
LADD sendromu / LADD syndrome
LADD syndrome, an acronym of Lacrimo-auriculo-dento-digital syndrome, is a rare genetic disease characterized by congestion or absence in tear canals, shape disorders in ear bucket, deficiency in teeth or shape anomalies and structural defects in hand/foot fingers. This syndrome showing autozomal dominant inheritance is caused by mutations in FGF10 or FGFR2 genes. Clinical findings may vary from person to person and the diagnosis is often subject to physical examination and genetic tests.
Disease Definition
🔬 Disease Definition
LADD sendromu (Lacrimo-Auriculo-Dento-Digital sendrom), gözyaşı kanalları, kulaklar, dişler ve parmakları etkileyen nadir bir genetik bozukluktur. Otozomal dominant kalıtım gösterir.
🧬 Causes & Risk Factors
FGFR2, FGFR3 veya TP63 genlerindeki mutasyonlar nedeniyle oluşur. Çoğu vaka aileseldir, bazıları spontan mutasyon sonucu gelişir.
🩺 Symptoms & Signs
Gözyaşı kanalı tıkanıklığı (epifora), kulak anomalileri (mikrotia, işitme kaybı), diş eksiklikleri (hipodonti), parmak anomalileri (sindaktili, polidaktili), yarık damak/dudak, böbrek anomalileri.
📋 Diagnostic Methods
Klinik değerlendirme, genetik test (FGFR2, FGFR3, TP63 mutasyon analizi), görüntüleme (işitme testi, dental röntgen, böbrek ultrasonu).
💊 Treatment Options
Semptomatik tedavi: Gözyaşı kanalı cerrahisi, işitme cihazı veya koklear implant, dental protezler, parmak anomalileri için cerrahi düzeltme, multidisipliner yaklaşım.
⚠️ Complications
Tekrarlayan gözyaşı kanalı enfeksiyonları, işitme kaybı, konuşma güçlüğü, diş çürükleri, böbrek yetmezliği.
Frequently Asked Questions
❓ What is LADD sendromu?
LADD sendromu; lADD syndrome, an acronym of Lacrimo-auriculo-dento-digital syndrome, is a rare genetic disease characterized by congestion or absence in tear canals, shape disorders in ear bucket, deficiency in teeth or shape anomalies and structural defects in hand/foot fingers. This syndrome showing autozomal dominant inheritance is caused by mutations in FGF10 or FGFR2 genes. Clinical findings may vary from person to person and the diagnosis is often subject to physical examination and genetic tests.
❓ What is LADD syndrome in Turkish?
The Turkish equivalent of "LADD syndrome" is LADD sendromu.
❓ Which medical field is LADD sendromu related to?
This term belongs to the Diseases category.