Definition:
Loeys-Dietz syndrome is an autosomal dominant disorder similar to the Marfan syndrome. It was first discovered by Harry Dietz and Bart Loeys.
Diagnosis:
The illness can be diagnosed through genetic testing and observation of the symptoms shown by the patient.
Treatment:
Treatment is done by managing the symptoms shown by the patient. Loeys-Dietz is a lifelong illness. Vascular surgery can be done on patients who show high risks of aneurysm. Angiotensin II receptor antagonist losartan is still tested if it could be used to prevent aneurysms.
Symptoms and Signs:
Symptoms of the disorder include orbital hypertolerism, aortic aneurysms, and cleft palate. Other ailments shown by people with this disease include congenital heart problems, joint hypermobility, scoliosis and club feet.
Causes:
The illness is caused by a genetic mutations that encode the transforming growth factor beta receptor 1 (TGFBR1) or 2 (TGFBR2).
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