Connective Tissue Disorders
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Angiopathy with nephropathy, aneurysms and muscle cramps (HANAC)
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Aortic valve disease
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Arterial tortuosity syndrome
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Arthrogryposis distal
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Brain small vessel disease with or without eye abnormalities
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Brittle cornea syndrome
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Bruck syndrome
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Congenital contractural arachnodactyly
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Cutis laxa
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Dentinogenesis imperfecta
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Ectopia lentis
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Ehlers-Danlos syndrome EDS
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Ehlers-Danlos syndrome vascular type
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Fibrodysplasia ossificans progressiva FOP
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Geleophysic dysplasia
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Hypophosphatasia
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Kniest dysplasia
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Larsen syndrome
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Lens luxation
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Linkeropathies
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Loeys-Dietz syndrome (LDS)
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Lysyl Hydroxylase 3 deficiency LH3
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Marfan syndrome
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Marshall syndrome
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Metaphyseal chondrodysplasia Schmid type
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Multiple epiphyseal dysplasia
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Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects
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Osteogenesis imperfecta all types OI
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Osteopetrosis
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Osteoporosis early onset
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Osteoporosis-pseudoglioma syndrome
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Otospondylomegaepiphyseal dysplasia
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Porencephaly
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Shprintzen-Goldberg syndrome
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Spondyloepiphyseal dysplasia with congenital joint dislocations
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Stickler syndrome
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Thoracic aortic aneurysm with dissection TAAD
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Wagner syndrome
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Weill-Marchesani syndrome
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Weissenbacher-Zweymuller syndrome