TY - CHAP M1 - Book, Section TI - Ehlers-Danlos Syndrome, Hypermobility and Classical Type A1 - Levy, Howard A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:Ligamentous laxity predisposes to joint instability, subluxations, and dislocations.Chronic pain and fatigue are common.The classical type is distinguished from the hypermobility type by the presence of skin fragility, hyperelasticity, and atrophic scarring in the former.Additional features may include easy bruising, prolonged bleeding, cardiovascular autonomic dysfunction, mild-to-moderate aortic root dilation, and functional bowel disorders.Hereditary basis:Both types of EDS are inherited in an autosomal dominant pattern.The genetic basis of most cases of hypermobility type EDS is unknown.Mutations in one of the two genes for type V collagen account for half of cases of classical type EDS.Differential diagnosis:Four other types of EDS are described in Table 169-1.There are dozens of other genetic causes for ligamentous laxity, including (but not limited to) Marfan syndrome, Loeys-Dietz syndrome, Stickler syndrome, fragile X syndrome, and Turner syndrome.Hypotonia, which itself is a feature of many genetic conditions, can also cause joint laxity, and may be difficult to distinguish from ligamentous laxity. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102707198 ER -