📂 Diseases
Frank–Ter Haar syndrome — Definition
Frank-Ter Haar sendromu / Frank–Ter Haar syndrome
Frank-Ter Haar syndrome is a rare genetic disease and manifests itself with its main skeleton abnormalities, cardiovascular defects and characteristic facial appearance. The disease monitors autozomal resessive inheritance and is caused by mutations in the TKS4 gene. The clinical findings include extensive nose root, pronounced forehead, short size, hand and heart cover problems with abnormalities in the foot fingers. The diagnosis is subject to clinical evaluation and genetic tests; it requires a multidisciplinary approach for treatment symptoms.
Frequently Asked Questions
❓ What is Frank-Ter Haar sendromu?
Frank-Ter Haar sendromu; frank-Ter Haar syndrome is a rare genetic disease and manifests itself with its main skeleton abnormalities, cardiovascular defects and characteristic facial appearance. The disease monitors autozomal resessive inheritance and is caused by mutations in the TKS4 gene. The clinical findings include extensive nose root, pronounced forehead, short size, hand and heart cover problems with abnormalities in the foot fingers. The diagnosis is subject to clinical evaluation and genetic tests; it requires a multidisciplinary approach for treatment symptoms.
❓ What is Frank–Ter Haar syndrome in Turkish?
The Turkish equivalent of "Frank–Ter Haar syndrome" is Frank-Ter Haar sendromu.
❓ Which medical field is Frank-Ter Haar sendromu related to?
This term belongs to the Diseases category.