Ehlers-Danlos/osteogenesis imperfecta syndrome
MONDO:0016470Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.
Also known as: EDS/OI syndrome
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Disease
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Hereditary disease
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Syndromic disease
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Ehlers-Danlos syndrome
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Human disease
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Developmental defect during embryogenesis
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Disease of genetic or genomic mechanism
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Disease by body system or component
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Disease by developmental or physiological process
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