📂 Diseases
Joubert syndrome 5 — Definition
Joubert sendromu 5 / Joubert syndrome 5
Joubert syndrome 5 is a genetic disease with autozomal resessive transition, characterized by structural abnormalities in the brain and brain stem. This lower type manifests itself with brain stem malformation, hypotoni, developmental delay and respiratory irregularities, typically called molar dental sign. Additional findings can also be seen in patients, such as anataxis, abnormal eye movements and kidney cysts. Joubert syndrome 5 is divided into other subtypes, depending on specific gene mutations.
Disease Definition
🔬 Disease Definition
Joubert sendromu 5, serebellar vermis hipoplazisi, molar diş belirtisi ve nörogelişimsel bozukluklarla karakterize, otozomal resesif geçişli bir siliyopatidir.
🧬 Causes & Risk Factors
CEP290 genindeki mutasyonlardan kaynaklanır; bu gen, birincil silyum yapısında rol oynar.
🩺 Symptoms & Signs
Hipotoni, ataksi, gelişimsel gecikme, anormal solunum paterni (takipne-apne), okülomotor apraksi, retinal distrofi, renal kistler.
📋 Diagnostic Methods
Klinik bulgular, beyin MRG'de molar diş belirtisi, genetik test (CEP290 mutasyon analizi).
💊 Treatment Options
Semptomatik ve destekleyici tedavi; fizik tedavi, solunum desteği, görme ve işitme rehabilitasyonu, renal takip.
⚠️ Complications
Solunum yetmezliği, kronik böbrek hastalığı, körlük, zihinsel yetersizlik.
Frequently Asked Questions
❓ What is Joubert sendromu 5?
Joubert sendromu 5; joubert syndrome 5 is a genetic disease with autozomal resessive transition, characterized by structural abnormalities in the brain and brain stem. This lower type manifests itself with brain stem malformation, hypotoni, developmental delay and respiratory irregularities, typically called molar dental sign. Additional findings can also be seen in patients, such as anataxis, abnormal eye movements and kidney cysts. Joubert syndrome 5 is divided into other subtypes, depending on specific gene mutations.
❓ What is Joubert syndrome 5 in Turkish?
The Turkish equivalent of "Joubert syndrome 5" is Joubert sendromu 5.
❓ Which medical field is Joubert sendromu 5 related to?
This term belongs to the Diseases category.