Joint hypermobility and genetic collagen disorders: are they related?
The HDCTs constitute a heterogeneous group of rare genetically determined diseases, the best known of which are Ehlers-Danlos and Marfan syndromes and osteogenesis imperfecta. Hypermobility is a feature common to them all, but it is also a feature that is highly prevalent in the population at large. Symptomatic hypermobile subjects (whose symptoms are attributable to their hypermobility) are said to be suffering from the benign joint hypermobility syndrome, which has many features that overlap with the HDCTs. It is not yet known whether there is a variety of hypermobility (symptomatic or otherwise) that is not part of a connective tissue disorder.
D003094:Collagen / Q000235:genetics; D003240:Connective Tissue Diseases / Q000145:classification* / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000235:genetics; D006801:Humans; D007593:Joint Instability / Q000145:classification* / Q000175:diagnosis / Q000209:etiology; D008382:Marfan Syndrome / Q000145:classification / Q000235:genetics; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000235:genetics