Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) Homocystinuria due to cystathionine beta-synthase deficiencyĮhlers-Danlos syndrome, musculocontractural Spondyloepimetaphyseal dysplasia, X-linked, Meester-Loeys syndrome Spondyloepimetaphyseal dysplasia with joint laxity, Ehlers-Danlos syndrome Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3 The overall frequency of Ehlers-Danlos syndrome is difficult to estimate, however, the combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide.Ĭutis laxa, autosomal recessive, type IID, Epileptic encephalopathyĬutis laxa, autosomal recessive, type IIC Because an undiagnosed EDS can be associated with an increased risk of sudden death or severe surgical complications and given the fact that it does have phenotypic overlap with conditions with different approaches to management, a correct diagnosis is very important. EDS can have phenotypic overlap with several conditions such as Marfan disease and cutis laxa. Occupational and physical therapy, bracing, and corrective surgery may help with the frequent injuries and pain that tend to develop in certain types of EDS. There is no cure for EDS, and treatment is supportive, including close monitoring of the digestive, excretory, and particularly the cardiovascular systems. EDS can also have neuromuscular complications including ocular and ophthalmic complications. In some cases, EDS can be life threatening. Abnormal collagen makes these structures more elastic. Collagen is an important contributor to the physical strength of skin, joints, ligaments, muscles, visceral organs and blood vessels and helps tissues resist deformation. It is caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen. Ehlers–Danlos syndrome (EDS) is a connective tissue disorder that has been classified into several primary types.
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