Hereditary connective tissue disorders

Abstract A connective tissue disorder is any disease that impacts the structures between cells, typically impacting collagen or elastin protein production or function. Heritable disorders of connective tissue is a broad category, ranging from a description of nonspecific features (hypermobility, flat feet, scoliosis) seen somewhat commonly in the general population to genetic syndromes typically without vascular involvement (Stickler syndrome, Ehlers–Danlos syndrome) to syndromes predisposing to vascular tear or rupture (heritable thoracic aortic disease).