Ehlers-Danlos/osteogenesis imperfecta syndrome

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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: // Data version September 2023.

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