📂 Diseases
Meacham syndrome — Definition
Meacham sendromu / Meacham syndrome
Meacham syndrome is a rare congenital anomalies and is typically characterized by diafragma herni, pulmonary hypoplasia and cardiovascular malformations. The disease occurs early with severe clinical findings such as respiratory shortage and heart failure. The genetic foundation has not been fully illuminated and most cases are considered sporadic.
Disease Definition
🔬 Disease Definition
Meacham sendromu, konjenital kalp defektleri, diyafragma hernisi ve diğer yapısal anomalilerle karakterize nadir bir genetik hastalıktır.
🧬 Causes & Risk Factors
WT1 genindeki mutasyonlar, otozomal dominant kalıtım.
🩺 Symptoms & Signs
Konjenital kalp defektleri (özellikle ventriküler septal defekt), diyafragma hernisi, pulmoner hipoplazi, genital anomaliler.
📋 Diagnostic Methods
Klinik değerlendirme, ekokardiyografi, genetik test (WT1 gen analizi).
💊 Treatment Options
Semptomatik ve cerrahi müdahale (kalp defekti onarımı, diyafragma hernisi onarımı).
⚠️ Complications
Solunum yetmezliği, kalp yetmezliği, pulmoner hipertansiyon.
Frequently Asked Questions
❓ What is Meacham sendromu?
Meacham sendromu; meacham syndrome is a rare congenital anomalies and is typically characterized by diafragma herni, pulmonary hypoplasia and cardiovascular malformations. The disease occurs early with severe clinical findings such as respiratory shortage and heart failure. The genetic foundation has not been fully illuminated and most cases are considered sporadic.
❓ What is Meacham syndrome in Turkish?
The Turkish equivalent of "Meacham syndrome" is Meacham sendromu.
❓ Which medical field is Meacham sendromu related to?
This term belongs to the Diseases category.