📂 Diseases
Noonan syndrome — Definition
Noonan sendromu / Noonan syndrome
Noonan syndrome is a genetic disorder, often accompanied by hereditary and characteristic facial properties, short size, congenital heart diseases and other physical anomalies. Results such as often low ears, hypertelorism (wide eye range) and pterygium colli (perde neck). In addition, bleeding disorders and lymphatic system abnormalities can also accompany this syndrome. Noonan syndrome, though it shows similarity with Turner syndrome, it can also be seen in both sex and shows autozomal dominant pass without chromosome anomalies.
Disease Definition
🔬 Disease Definition
Noonan sendromu, çoklu sistemleri etkileyen, otozomal dominant geçişli genetik bir hastalıktır. Tipik yüz görünümü, kısa boy, konjenital kalp hastalıkları ve gelişimsel gecikme ile karakterizedir.
🧬 Causes & Risk Factors
Genellikle PTPN11, SOS1, RAF1, RIT1, KRAS, NRAS, BRAF, MAP2K1 ve MAP2K2 genlerindeki mutasyonlardan kaynaklanır. Vakaların yaklaşık %50'si PTPN11 mutasyonu ile ilişkilidir.
🩺 Symptoms & Signs
Kısa boy, hipertelorizm, aşağı eğimli palpebral fissürler, düşük kulaklar, boyunda yele (pterygium colli), göğüs deformitesi (pektus karinatum/ekskavatum), pulmoner stenoz, hipertrofik kardiyomiyopati, kriptorşidizm, gelişimsel gecikme, öğrenme güçlüğü.
📋 Diagnostic Methods
Klinik değerlendirme (Van der Burgt kriterleri), genetik test (mutasyon analizi), ekokardiyografi, işitme testi, oftalmolojik muayene.
💊 Treatment Options
Semptomatik ve multidisipliner yaklaşım: Büyüme hormonu tedavisi (kısa boy için), kardiyak cerrahi (kalp defektleri için), gelişimsel destek, özel eğitim, düzenli takip.
⚠️ Complications
Kalp yetmezliği, pulmoner hipertansiyon, işitme kaybı, görme sorunları, kanama diyatezi (özellikle Faktör XI eksikliği), lenfödem, malignite riskinde artış (özellikle juvenil miyelomonositik lösemi).
Frequently Asked Questions
❓ What is Noonan sendromu?
Noonan sendromu; noonan syndrome is a genetic disorder, often accompanied by hereditary and characteristic facial properties, short size, congenital heart diseases and other physical anomalies. Results such as often low ears, hypertelorism (wide eye range) and pterygium colli (perde neck). In addition, bleeding disorders and lymphatic system abnormalities can also accompany this syndrome. Noonan syndrome, though it shows similarity with Turner syndrome, it can also be seen in both sex and shows autozomal dominant pass without chromosome anomalies.
❓ What is Noonan syndrome in Turkish?
The Turkish equivalent of "Noonan syndrome" is Noonan sendromu.
❓ Which medical field is Noonan sendromu related to?
This term belongs to the Diseases category.