Hereditary disorders of connective tissue

Abstract The Oxford Handbook of Rheumatology, 5th edition, includes a chapter on the hereditary diseases of connective tissue. Of importance, up-to-date genetic information and classification of subtypes of osteogenesis imperfecta is reviewed. There is a summary of a broad range of diseases of connective tissue including Marfan syndrome, Stickler disease, and arthrogryposis—conditions encountered occasionally by the rheumatologist. The chapter details the new 2017 criteria for Ehlers–Danlos syndromes and hypermobility spectrum disorders and the distinction between generalized, localized, and regional hypermobility and hypermobility Ehlers–Danlos syndrome, both in adults and in children.