Ehlers-Danlos/osteogenesis imperfecta syndrome

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Name:
Ehlers-Danlos/osteogenesis imperfecta syndrome
Description:
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.
ORPHAcode:
230857
Synonyms:
EDS/OI syndrome
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14