Loeys-dietz syndrome
Loeys-Dietz syndrome (pronunciation: loys deetz syndrome) is a genetic disorder characterized by the body's connective tissue's abnormal growth. The syndrome was first described by Bart Loeys and Hal Dietz in 2005, hence the name Loeys-Dietz syndrome.
Etymology
The syndrome is named after the two scientists, Bart Loeys and Hal Dietz, who first described the condition in 2005. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence."
Symptoms
The symptoms of Loeys-Dietz syndrome include hypertelorism (wide-set eyes), cleft palate or bifid uvula, and an aneurysm in the aorta. Other symptoms may include scoliosis, pectus excavatum (sunken chest), and joint hypermobility.
Causes
Loeys-Dietz syndrome is caused by mutations in the TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3 genes. These genes are involved in the TGF-beta signaling pathway, which regulates cell growth and division (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis).
Diagnosis
Diagnosis of Loeys-Dietz syndrome is based on clinical features and confirmed by genetic testing. The syndrome can be diagnosed using echocardiography, computed tomography (CT) scan, or magnetic resonance imaging (MRI).
Treatment
Treatment for Loeys-Dietz syndrome typically involves managing symptoms and preventing complications. This may include surgery to repair the aorta, medication to control blood pressure, and regular monitoring of the heart and blood vessels.
See also
External links
- Medical encyclopedia article on Loeys-dietz syndrome
- Wikipedia's article - Loeys-dietz syndrome
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