Ehlers-Danlos/osteogenesis imperfecta syndrome
Synonyms: EDS/OI syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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