Thelansis

  Vascular Ehlers-Danlos syndrome is an autosomal dominant condition; a child only has to inherit a defect in the COL3A1 gene from one parent to have the disorder. Half of the people with vascular Ehlers-Danlos syndrome inherited the COL3A1 mutation from an affected parent. The other half of people with the condition have a spontaneous disease-causing mutation; they are the first person in their family to have vascular Ehlers-Danlos syndrome. Each child of an affected parent has a 50% chance of inheriting the mutation and developing the disorder. The diagnosis of vascular Ehlers-Danlos syndrome is based on examining and identifying certain features and confirmation by laboratory testing. This testing may include DNA sequence analysis, deletion/duplication analysis, and biochemical (protein-based) testing. Genetic testing detects 98 percent of the changes in the gene for vascular Ehlers-Danlos syndrome; the rest require more specialized tests. Genetic testing is strongly recommended...