Loeys-Dietz syndrome

The connective tissue disease belonging to Loey-Dietz syndrome combines different symptoms. Of particular interest for the diagnosis are aortic aneurysms, hypertelorism, cleft palate and / or uvula bifida and tortuous arteries throughout the body.

The inheritance of the disease is autosomal dominant, and already manifests in newborn or in toddlers. The cause of the syndrome are mutations in the genes that are responsible for TGFß receptors.