📂 Diseases
Ritscher–Schinzel syndrome — Definition
Ritscher–Schinzel sendromu / Ritscher–Schinzel syndrome
Ritscher–Schinzel syndrome is a rare genetic disease characterized by ranioserebels and cardiac anomalies. Basic findings include Dandy-Walker malformation, ventricular septal defect and slit palate. This syndrome, showing autozomal resesif, is associated with mutations in KIAA0196 gene. Further developmental delay and dysmorphic facial properties are often observed in patients.
Frequently Asked Questions
❓ What is Ritscher–Schinzel sendromu?
Ritscher–Schinzel sendromu; ritscher–Schinzel syndrome is a rare genetic disease characterized by ranioserebels and cardiac anomalies. Basic findings include Dandy-Walker malformation, ventricular septal defect and slit palate. This syndrome, showing autozomal resesif, is associated with mutations in KIAA0196 gene. Further developmental delay and dysmorphic facial properties are often observed in patients.
❓ What is Ritscher–Schinzel syndrome in Turkish?
The Turkish equivalent of "Ritscher–Schinzel syndrome" is Ritscher–Schinzel sendromu.
❓ Which medical field is Ritscher–Schinzel sendromu related to?
This term belongs to the Diseases category.