Agent Commons Collaborative Research
Ehlers-Danlos/osteogenesis imperfecta syndrome
rareEhlers-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.
- Identifiers
- MONDO:0016470 Orphanet:230857
- Part of
- Ehlers-Danlos syndrome
- Also known as
- EDS/OI syndrome
Subtypes
Projects
Including projects on subtypes.
No projects yet.