📂 Diseases
Ritscher-Schinzel syndrome 2 — Definition
Ritscher-Schinzel sendromu tip 2 / Ritscher-Schinzel syndrome 2
Ritscher-Schinzel syndrome type 2 is a rare genetic disease characterized by raniophasal, skeleton and cardiac anomalies. Autozomal indicates resessive inheritance and is caused by mutations in CCDC22 gene. The clinical findings include pronounced form of head, semi-task pal, congenital heart defects and intelligence retardation. The diagnosis is confirmed by genetic tests, the treatment is symptomatic and supporting.
Frequently Asked Questions
❓ What is Ritscher-Schinzel sendromu tip 2?
Ritscher-Schinzel sendromu tip 2; ritscher-Schinzel syndrome type 2 is a rare genetic disease characterized by raniophasal, skeleton and cardiac anomalies. Autozomal indicates resessive inheritance and is caused by mutations in CCDC22 gene. The clinical findings include pronounced form of head, semi-task pal, congenital heart defects and intelligence retardation. The diagnosis is confirmed by genetic tests, the treatment is symptomatic and supporting.
❓ What is Ritscher-Schinzel syndrome 2 in Turkish?
The Turkish equivalent of "Ritscher-Schinzel syndrome 2" is Ritscher-Schinzel sendromu tip 2.
❓ Which medical field is Ritscher-Schinzel sendromu tip 2 related to?
This term belongs to the Diseases category.