📂 Diseases
CHIME syndrome — Definition
CHIME sendromu / CHIME syndrome
It is a rare genetic disorder, characterized by colobom (halk in the eyes), heart defects, ikthioziform dermatitis (pullu skin), mental insufficiency and ear anomalies (microrotia). Autozomal indicates resessive inheritance and is caused by mutations in PIGL gene. In patients, seizures, growth retardation and facial dysmorphism are often seen.
Disease Definition
🔬 Disease Definition
CHIME sendromu, nörolojik gelişimsel bozukluklar, kolobom, kalp defektleri, iktiyoziform dermatoz, mental retardasyon ve kulak anomalileri ile karakterize nadir bir genetik hastalıktır.
🧬 Causes & Risk Factors
PIGL genindeki mutasyonlar, otozomal resesif kalıtım.
🩺 Symptoms & Signs
Kolobom (göz), konjenital kalp defektleri, iktiyoz (cilt pullanması), zihinsel yetersizlik, işitme kaybı, yüz dismorfizmi, nöbetler.
📋 Diagnostic Methods
Klinik değerlendirme, genetik test (PIGL geni analizi), göz muayenesi, ekokardiyografi, cilt biyopsisi.
💊 Treatment Options
Semptomatik tedavi: cilt nemlendiricileri, kalp defektleri için cerrahi, işitme cihazları, antiepileptik ilaçlar, gelişimsel destek.
⚠️ Complications
Kardiyak yetmezlik, tekrarlayan enfeksiyonlar, nöbetler, görme kaybı, gelişimsel gecikme.
Frequently Asked Questions
❓ What is CHIME sendromu?
CHIME sendromu; it is a rare genetic disorder, characterized by colobom (halk in the eyes), heart defects, ikthioziform dermatitis (pullu skin), mental insufficiency and ear anomalies (microrotia). Autozomal indicates resessive inheritance and is caused by mutations in PIGL gene. In patients, seizures, growth retardation and facial dysmorphism are often seen.
❓ What is CHIME syndrome in Turkish?
The Turkish equivalent of "CHIME syndrome" is CHIME sendromu.
❓ Which medical field is CHIME sendromu related to?
This term belongs to the Diseases category.