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Ehlers-Danlos/osteogenesis imperfecta syndrome
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Disease definition
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.
ORPHA:230857
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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Further information on this disease
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Newborn screening
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